Full data view for gene TYR

Information The variants shown are described using the NM_000372.4 transcript reference sequence.

225 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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     
+?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - - - DNA SEQ - - OCA1A 25455140 OCA_07 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >52y - - - 1 Pieter Klap
+?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - - - DNA SEQ - - OCA1B 25455140 OCA_08 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - F - Colombia - >29y - - - 1 Pieter Klap
+?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - - - DNA SEQ - - OCA1B 25455140 OCA_10 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >18y - - - 1 Pieter Klap
+?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - - - DNA SEQ - - OCA1B 25455140 OCA_11 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - F - Colombia - >31y - - - 1 Pieter Klap
+?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - - - DNA SEQ - - OCA2 25455140 OCA_17 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >56y - - - 1 Pieter Klap
?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - VUS g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Thomas 2017, Journal: Thomas 2017 - rs1126809 Germline yes - - - - DNA SEQ-NG Mervyn - OCA1A NYS-005 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 3 affected (F, 2M) F;M - United Kingdom (Great Britain) - - - - - 3 Mervyn Thomas
+?/. 4 c.1205G>A r.(?) p.(Arg402Gln) Unknown - VUS g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline yes - - - - DNA SEQ-NG - - OCA1A NYS-015 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Mervyn Thomas
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child10 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child11 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child1 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child2 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child3 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child4 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child6 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child7 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child8 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child9 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child10 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child11 F no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child12 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child4 M no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child5 F no United States - - - - - 1 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
-/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - benign g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child11 F no United States - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Chiang 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Chiang 2009 - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Hutton and Spritz 2008 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Hutton and Spritz 2008 - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009 - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Tripathi 1991 - rs1126809 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Tripathi 1991 - - - - whites - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Morell 1997 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Morell 1997 - - - - white - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Opitz 2004 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Opitz 2004 - - - - white - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Toyofuku 2001 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Toyofuku 2001 - - - - white - - - - 1 William (Bill) Oetting
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #1 - pathogenic g.89017961G>A g.89284793G>A - - TYR_000003 copied from the “Albanism Database” (University of Minnesota) PubMed: Tripathi 1991 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Tripathi 1991 - - - - white - - - - 1 William (Bill) Oetting
-?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely benign g.89017961G>A g.89284793G>A TYR(NM_000372.4):c.1205G>A (p.R402Q), TYR(NM_000372.5):c.1205G>A (p.R402Q) - TYR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown - benign g.89017961G>A g.89284793G>A TYR(NM_000372.4):c.1205G>A (p.R402Q), TYR(NM_000372.5):c.1205G>A (p.R402Q) - TYR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown - VUS g.89017961G>A g.89284793G>A TYR(NM_000372.4):c.1205G>A (p.R402Q), TYR(NM_000372.5):c.1205G>A (p.R402Q) - TYR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - likely pathogenic (recessive) g.89017961G>A - - - TYR_000003 - - - - Germline yes - - - - DNA PCR, SEQ-NG Saliva - OCA F1:II-1 - - M no - - - - - - 1 Mervyn Thomas
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - likely pathogenic (recessive) g.89017961G>A - - - TYR_000003 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA1 F1:II-2 - - M no - - - - - - 1 Mervyn Thomas
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Maternal (confirmed) - likely pathogenic (recessive) g.89017961G>A - - - TYR_000003 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA F2:II-2 - - F no - - - - - - 1 Mervyn Thomas
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.1467dupT p.(Ala490CysfsTer20) het TYR c.575C>A p.(Ser192Tyr) het TYR c.1205G>A p.(Arg402Gln) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16002468 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.1118C>A p.(Thr373Lys) het TYR c.1205G>A p.(Arg402Gln) het TYR c.575C>A p.(Ser192Tyr) hom - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 40 genes panel tested retinal disease 16017162 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.1118C>A p.(Thr373Lys) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16026544 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.1204C>T p.(Arg402Ter) het TYR c.575C>A p.(Ser192Tyr) het TYR c.1205G>A p.(Arg402Gln) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17007832 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.1217C>T p.(Pro406Leu) het TYR c.1205G>A p.(Arg402Gln) het TYR c.575C>A p.(Ser192Tyr) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17011637 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.242C>T p.(Pro81Leu) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17012896 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.1099C>T p.(His367Tyr) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17029046 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown ACMG VUS g.89017961G>A g.89284793G>A TYR c.61C>T p.(Pro21Ser) het TYR c.575C>A p.(Ser192Tyr) het TYR c.1205G>A p.(Arg402Gln) het - TYR_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 18017244 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) ACMG likely pathogenic g.89017961G>A g.89284793G>A TYR c.1205G>A, p.(Arg402Gln) - TYR_000003 homozygous PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-507 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband's sister F - Spain - - - - - 1 LOVD
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Maternal (confirmed) ACMG likely pathogenic g.89017961G>A g.89284793G>A TYR c.1205G>A, p.(Arg402Gln) - TYR_000003 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-508 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband M - Spain - - - - - 1 LOVD
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) ACMG likely pathogenic g.89017961G>A g.89284793G>A TYR c.1205G>A, p.(Arg402Gln) - TYR_000003 homozygous PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-507 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband's sister F - Spain - - - - - 1 LOVD
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Maternal (confirmed) ACMG likely pathogenic g.89017961G>A g.89284793G>A TYR c.1205G>A, p.(Arg402Gln) - TYR_000003 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-508 PubMed: Rodriguez Munoz 2021 family ID fRPN-219, proband M - Spain - - - - - 1 LOVD
+?/. - c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - likely pathogenic (recessive) g.89017961G>A - - - TYR_000003 variant might explain phenotype trans-illumination defects iris PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F8:II-1 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - 1 Mohammed A.M Derar
+/. 5 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 5 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 5 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P55 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P48 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P75 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P96 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P98 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P157 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P39 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P26 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P30 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P33 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P37 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P40 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P54 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P60 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P70 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P79 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P106 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P109 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P111 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P120 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P126 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.1205G>A r.(?) p.(Arg402Gln) Both (homozygous) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P129 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P4 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P9 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P11 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P15 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Maternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P16 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P17 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P18 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Paternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P19 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P20 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Maternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Parent #2 - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P22 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1205G>A r.(?) p.(Arg402Gln) Maternal (confirmed) - pathogenic (recessive) g.89017961G>A g.89284793G>A - - TYR_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P23 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

This database is one of the ”Eye disease” gene variant databases


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.