Full data view for gene RHO

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000539.3 transcript reference sequence.

198 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs29001566 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - VUS g.129252554C>T - Pro347Leu (CCG-CTG) - RHO_000004 - PubMed: Milla 2002 - - Germline yes - - - - DNA DGGE, SSCA - - retinal disease - PubMed: Milla 2002 - - - Spain - - - - - 29 Julia Lopez
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T - P347L - RHO_000004 - PubMed: Ziviello 2005 - - Germline - - - - - DNA DHPLC blood - retinal disease - PubMed: Ziviello 2005 - - - Italy - - - - - 2 Julia Lopez
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - pathogenic (dominant) g.129252554C>T - - - RHO_000004 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - pathogenic (dominant) g.129252554C>T - - - RHO_000004 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T - 3:129252554C>T ENST00000296271.3:c.1040C>T (Pro347Leu) - RHO_000004 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000175 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Stone 2017 - - De novo - - - - - DNA SEQ-NG - - retinal disease 62 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Stone 2017 - - De novo - - - - - DNA SEQ-NG - - retinal disease 312 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-017 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP018 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - pathogenic g.129252554C>T - 1040C>T - RHO_000004 BNG binding site PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 2 families - - United States - - - - - 2 Julia Lopez
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012574 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13008977 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 5A2+H.62 PubMed: Ge 2015 3-generation family, 4 affected (2F, 2M) F;M - United States - - - - - 4 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Yang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP154 PubMed: Yang 2015 family M - China Han - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Yoon 2015 - rs29001566 Germline - - - - - DNA SEQ-NG - 53-gene panel retinal disease F09 PubMed: Yoon 2015 family - - Korea - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP042 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP100 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP343 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Pierrottet 2014 - - Germline - - - - - DNA SEQ-NG - - retinal disease P22 PubMed: Pierrottet 2014 - - - Italy - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA SEQ, SSCA - - retinal disease RP‐0220 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA DGGE, SEQ - - retinal disease RP‐0542 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline - - - - - DNA DGGE, SEQ - - retinal disease RP‐0685 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline - - - - - DNA arraySEQ - RP chip retinal disease RP‐0900 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA DGGE, SEQ - - retinal disease RP‐0975 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA arraySEQ - RP chip retinal disease RP‐1453 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline - - - - - DNA arraySEQ - RP chip retinal disease RP‐1472 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA arraySEQ - RP chip retinal disease RP‐1697 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Fernandez 2014 - - Germline - - - - - DNA arraySEQ - RP chip retinal disease RP‐2181 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Pan 2014 - - Germline - - - - - DNA SEQ-NG - 179-gene panel retinal disease Fam06 PubMed: Pan 2014 2-generation family, 1 affected (M) - - China - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Both (homozygous) - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Both (homozygous) - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Both (homozygous) - pathogenic g.129252554C>T - - - RHO_000004 - PubMed: Lim-2009 - - Germline - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Lim-2009 - F - - Chinese - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T - - RHO_000004 - PubMed: Martin-Merida 2018 - - Germline ? 10/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - p.Pro347Leu - RHO_000004 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - DNA arraySNP blood adRP genotyping microarray retinal disease - PubMed: Blanco-Kelly-2012 - - - Spain spanish - - - - 4 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG pathogenic g.129252554C>T g.129533711C>T NM_000539.3:c.1040C>T, NP_000530.1:p.(Pro347Leu), NC_000003.11:g.129252554C>T - RHO_000004 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121203 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - Pro347Leu - RHO_000004 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - - - - - - 1 LOVD
?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - VUS g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Kim-2012 - - Unknown - 2/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - - - China - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T - (Pro347Leu)* - RHO_000004 - PubMed: Mezer-2006 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Mezer-2006 - - - Canada Canadian - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 ACMG pathogenic g.129252554C>T g.129533711C>T RHO NM_000539: g.5072C>T, c.1040C>T, p.P347L - RHO_000004 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19869 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.(Pro347Leu) - RHO_000004 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Whole exome sequencing retinal disease 128 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.P347L - RHO_000004 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 36 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.P347L - RHO_000004 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 37 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.P347L - RHO_000004 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 38 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 8 PubMed: Weisschuh 2020 Filing key number: 4, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 9 PubMed: Weisschuh 2020 Filing key number: 4, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 10 PubMed: Weisschuh 2020 Filing key number: 4, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 391 PubMed: Weisschuh 2020 Filing key number: 129, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 392 PubMed: Weisschuh 2020 Filing key number: 129, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 393 PubMed: Weisschuh 2020 Filing key number: 129, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 816 PubMed: Weisschuh 2020 Filing key number: 332, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 817 PubMed: Weisschuh 2020 Filing key number: 332, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 818 PubMed: Weisschuh 2020 Filing key number: 332, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 933 PubMed: Weisschuh 2020 Filing key number: 406, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 934 PubMed: Weisschuh 2020 Filing key number: 406, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 962 PubMed: Weisschuh 2020 Filing key number: 430, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 980 PubMed: Weisschuh 2020 Filing key number: 444, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 981 PubMed: Weisschuh 2020 Filing key number: 444, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 990 PubMed: Weisschuh 2020 Filing key number: 454, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 991 PubMed: Weisschuh 2020 Filing key number: 454, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 999 PubMed: Weisschuh 2020 Filing key number: 460, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1000 PubMed: Weisschuh 2020 Filing key number: 460, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1001 PubMed: Weisschuh 2020 Filing key number: 460, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Parent #1 - likely pathogenic g.129252554C>T g.129533711C>T RHO, variant 1: c.1040C>T/p.P347L - RHO_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1224 PubMed: Weisschuh 2020 Filing key number: 965, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.Pro347Leu - RHO_000004 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000175 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.(P347L) - RHO_000004 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 120 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.(P347L) - RHO_000004 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 19544 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.(P347L) - RHO_000004 - PubMed: Xiao-2021 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 19576 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.(P347L) - RHO_000004 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 19780 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - likely pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic g.129252554C>T g.129533711C>T RHO c.1040C>T, p.Pro347Leu - RHO_000004 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP11 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Colombo-2020 - rs29001566 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Colombo-2020 - rs29001566 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Colombo-2020 - rs29001566 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Colombo-2020 - rs29001566 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 5 c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T - c.1040C>T - RHO_000004 - PubMed: Colombo-2020 - rs29001566 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown ACMG likely pathogenic g.129252554C>T g.129533711C>T RHO c.[1040C>T];[1040=], V1: c.1040C>T, (p.Pro347Leu) - RHO_000004 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F129 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T RHO C-to-T transition in the second nucleotide of codon 347 - Pro/Leu - RHO_000004 heterozygous PubMed: Dryja 1990 - rs29001566 Germline yes - - - - DNA SEQ - - retinal disease A_Patient 1 PubMed: Dryja 1990 proband M - United States - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T RHO C-to-T transition in the second nucleotide of codon 347 - Pro/Leu - RHO_000004 heterozygous PubMed: Dryja 1990 - rs29001566 Germline yes - - - - DNA RFLP - - retinal disease A_I:2 PubMed: Dryja 1990 - F - United States - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T RHO C-to-T transition in the second nucleotide of codon 347 - Pro/Leu - RHO_000004 heterozygous PubMed: Dryja 1990 - rs29001566 Germline yes - - - - DNA RFLP - - retinal disease A_II:2 PubMed: Dryja 1990 - M - United States - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T RHO C-to-T transition in the second nucleotide of codon 347 - Pro/Leu - RHO_000004 heterozygous PubMed: Dryja 1990 - rs29001566 Germline yes - - - - DNA RFLP - - retinal disease A_II:4 PubMed: Dryja 1990 - M - United States - - - - - 1 LOVD
+/. - c.1040C>T r.(?) p.(Pro347Leu) Unknown - pathogenic (dominant) g.129252554C>T g.129533711C>T RHO C-to-T transition in the second nucleotide of codon 347 - Pro/Leu - RHO_000004 heterozygous PubMed: Dryja 1990 - rs29001566 Germline yes - - - - DNA RFLP - - retinal disease A_II:7 PubMed: Dryja 1990 - F - United States - - - - - 1 LOVD
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