Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

641 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/+ 13 c.2276G>T r.(?) p.(Cys759Phe) - Unknown - VUS g.216420460C>A g.216247118C>A - - USH2A_000016 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+?/. 13 c.2276G>T r.(?) p.(Cys759Phe) - Parent #1 - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - PubMed: Neveling 2013 - - Unknown - - - - - DNA SEQ - - RP - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) - Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I Blood - RP39 51ORG PubMed: de Castro-Miró 2016 - M ? Spain white - - - - 2 Marta de Castro-Miró
+?/+ 13 c.2276G>T r.(?) p.(Cys759Phe) - Unknown ACMG likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease 73ORG1 PubMed: de Castro-Miró 2016 - F no Spain - - - - - 1 Marta de Castro-Miró
+?/. 13 c.2276G>T r.(?) p.(Cys759Phe) - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - F no Spain - - - - - 1 Marta de Castro-Miró
+?/. 13 c.2276G>T r.(?) p.(Cys759Phe) - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - F no Spain - - - - - 1 Marta de Castro-Miró
+?/. 13 c.2276G>T r.(?) p.(Cys759Phe) - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - PubMed: de Castro-Miró 2014 - - Germline - - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - M no Spain - - - - - 1 Marta de Castro-Miró
+/. - c.2276G>T r.(?) p.(Cys759Phe) - Unknown - pathogenic g.216420460C>A g.216247118C>A USH2A(NM_206933.2):c.2276G>T (p.C759F), USH2A(NM_206933.4):c.2276G>T (p.C759F, p.(Cys759Phe)) - USH2A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.2276G>T r.2276g>u p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - - Unknown - - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#21 Manuscript under review (González-del Pozo et al., 2018) - - ? Spain - ? - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276g>u p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#5 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#19 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Parent #1 - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#40 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#18 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#12 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Parent #1 - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#38 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#17 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 13 c.2276G>T r.2276U>T p.Cys759Phe - Unknown - likely pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 - - - rs80338902 Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_##39 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous; Pathogenic_RP PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH - PubMed: Aller 2004 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH - PubMed: Aller 2004 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 0/200 controls +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 0/200 controls +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 0/200 controls +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2005, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2005, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2005, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2005, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Bernal 2005 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 2/200 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Relative - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Rivolta 2000, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - 1/380 controls +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Rivolta 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #2 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Baux 2014 Relative F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - RPar - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Homozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2276G>T r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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