Full data view for gene TYR

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

166 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     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     
+?/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - VUS g.88911696C>A g.89178528C>A - - TYR_000012 mild features patient might be associated with homozygous variant PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline - - - - - DNA SEQ-NG - - OCA1A NYS-011 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 2 affected (F, M) F;M - United Kingdom (Great Britain) - - - - - 2 Mervyn Thomas
+?/. 1 c.575C>A r.(?) p.Ser192Tyr Unknown - NA g.88911696C>A g.89178528C>A - - TYR_000012 enzyme assay showed reduced (0.40) tyrosine hydroxylase and DOPA oxidase activities PubMed: Chaki 2011, Journal: Chanki 2001 - rs1042602 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child1 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child2 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child3 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child4 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child5 M no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child8 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child9 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child12 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child2 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child3 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child8 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #2 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child9 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child10 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child12 F no United States - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - 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
+/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - pathogenic g.88911696C>A g.89178528C>A - - TYR_000012 copied from the “Albanism Database” (University of Minnesota) PubMed: Giebel and Spritz 1990 - rs1042602 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Giebel and Spritz 1990 - - - - white - - - - 1 William (Bill) Oetting
-/. - c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A TYR(NM_000372.4):c.575C>A (p.S192Y), TYR(NM_000372.5):c.575C>A (p.S192Y) - TYR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A TYR(NM_000372.4):c.575C>A (p.S192Y), TYR(NM_000372.5):c.575C>A (p.S192Y) - TYR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575C>A r.(?) p.(Ser192Tyr) Unknown - VUS g.88911696C>A g.89178528C>A TYR(NM_000372.4):c.575C>A (p.S192Y), TYR(NM_000372.5):c.575C>A (p.S192Y) - TYR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.575C>A r.(?) p.(Ser192Tyr) Paternal (confirmed) - likely pathogenic (recessive) g.88911696C>A - - - TYR_000012 - - - - Germline yes - - - - DNA PCR, SEQ-NG Saliva - OCA F1:II-1 - - M no - - - - - - 1 Mervyn Thomas
+?/. - c.575C>A r.(?) p.(Ser192Tyr) Paternal (confirmed) - likely pathogenic (recessive) g.88911696C>A - - - TYR_000012 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA1 F1:II-2 - - M no - - - - - - 1 Mervyn Thomas
+?/. - c.575C>A r.(?) p.(Ser192Tyr) Maternal (confirmed) - likely pathogenic (recessive) g.88911696C>A - - - TYR_000012 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA F2:II-1 - - M no - - - - - - 1 Mervyn Thomas
+?/. - c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) ACMG VUS g.88911696C>A - - - TYR_000012 - - - - Germline - - - - - DNA SEQ-NG - - albinism, USH2C - - - - - - - - - - - 1 Anju Shukla
?/. - c.575C>A r.(?) p.(Ser192Tyr) Unknown ACMG VUS g.88911696C>A g.89178528C>A TYR c.1467dupT p.(Ala490CysfsTer20) het TYR c.575C>A p.(Ser192Tyr) het TYR c.1205G>A p.(Arg402Gln) het - TYR_000012 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.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) ACMG VUS g.88911696C>A g.89178528C>A TYR c.1118C>A p.(Thr373Lys) het TYR c.1205G>A p.(Arg402Gln) het TYR c.575C>A p.(Ser192Tyr) hom - TYR_000012 homozygous 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.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) ACMG VUS g.88911696C>A g.89178528C>A TYR c.1118C>A p.(Thr373Lys) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000012 homozygous 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.575C>A r.(?) p.(Ser192Tyr) Unknown ACMG VUS g.88911696C>A g.89178528C>A TYR c.1204C>T p.(Arg402Ter) het TYR c.575C>A p.(Ser192Tyr) het TYR c.1205G>A p.(Arg402Gln) het - TYR_000012 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.575C>A r.(?) p.(Ser192Tyr) Unknown ACMG VUS g.88911696C>A g.89178528C>A TYR c.1217C>T p.(Pro406Leu) het TYR c.1205G>A p.(Arg402Gln) het TYR c.575C>A p.(Ser192Tyr) het - TYR_000012 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.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) ACMG VUS g.88911696C>A g.89178528C>A TYR c.242C>T p.(Pro81Leu) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000012 homozygous 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.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) ACMG VUS g.88911696C>A g.89178528C>A TYR c.1099C>T p.(His367Tyr) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000012 homozygous 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.575C>A r.(?) p.(Ser192Tyr) Unknown ACMG VUS g.88911696C>A g.89178528C>A TYR c.61C>T p.(Pro21Ser) het TYR c.575C>A p.(Ser192Tyr) het TYR c.1205G>A p.(Arg402Gln) het - TYR_000012 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
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Parent #1 - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P9 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P11 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P15 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P16 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P17 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P18 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P19 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P20 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P24 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P25 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P26 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P28 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P29 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P30 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P31 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P32 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P35 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P36 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P37 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P38 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P39 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P40 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P42 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P44 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P46 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P47 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P48 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P49 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P50 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P51 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P52 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P53 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P56 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P57 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Unknown - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P58 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P61 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P64 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P65 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P66 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. 1 c.575C>A r.(?) p.(Ser192Tyr) Both (homozygous) - benign g.88911696C>A g.89178528C>A - - TYR_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P67 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     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.