Full data view for gene TYR

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

32 entries on 1 page. Showing entries 1 - 32.
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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     
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T P406L - TYR_000065 - 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.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T P406L - TYR_000065 - 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.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T - - TYR_000065 copied from the “Albanism Database” (University of Minnesota) PubMed: Chaki 2005b - rs104894313 Germline - - - - - DNA SEQ - - OCA1B - PubMed: Chaki 2005b - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T - - TYR_000065 copied from the “Albanism Database” (University of Minnesota) PubMed: Giebel 1991c - rs104894313 Germline - - - - - DNA SEQ - - OCA1B - PubMed: Giebel 1991c - - - - white - - - - 1 William (Bill) Oetting
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T - - TYR_000065 copied from the “Albanism Database” (University of Minnesota) PubMed: Hutton 2008b - rs104894313 Germline - - - - - DNA SEQ - - OCA1B - PubMed: Hutton 2008b - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T - - TYR_000065 copied from the “Albanism Database” (University of Minnesota) PubMed: King 2003 - rs104894313 Germline - - - - - DNA SEQ - - OCA1B - PubMed: King 2003 - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T - - TYR_000065 copied from the “Albanism Database” (University of Minnesota) PubMed: Opitz 2004 - rs104894313 Germline - - - - - DNA SEQ - - OCA1B - PubMed: Opitz 2004 - - - - - - - - - 1 William (Bill) Oetting
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic g.89017973C>T g.89284805C>T - - TYR_000065 copied from the “Albanism Database” (University of Minnesota) PubMed: Toyofuku 2001 - rs104894313 Germline - - - - - DNA SEQ - - OCA1B - PubMed: Toyofuku 2001 - - - - - - - - - 1 William (Bill) Oetting
?/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown - VUS g.89017973C>T g.89284805C>T TYR(NM_000372.4):c.1217C>T (p.P406L), TYR(NM_000372.5):c.1217C>T (p.P406L, p.(Pro406Leu)) - TYR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown - VUS g.89017973C>T g.89284805C>T TYR(NM_000372.4):c.1217C>T (p.P406L), TYR(NM_000372.5):c.1217C>T (p.P406L, p.(Pro406Leu)) - TYR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown - pathogenic g.89017973C>T g.89284805C>T TYR(NM_000372.4):c.1217C>T (p.P406L), TYR(NM_000372.5):c.1217C>T (p.P406L, p.(Pro406Leu)) - TYR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown - VUS g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Wang 2017 - rs104894313 Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD11–06 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown ACMG pathogenic g.89017973C>T g.89284805C>T TYR c.1217C>T p.(Pro406Leu) het TYR c.1205G>A p.(Arg402Gln) het TYR c.575C>A p.(Ser192Tyr) het - TYR_000065 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.1217C>T r.(?) p.(Pro406Leu) Unknown ACMG pathogenic g.89017973C>T g.89284805C>T TYR c.1146C>A p.(Asn382Lys) het TYR c.1217C>T p.(Pro406Leu) het - TYR_000065 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16000955 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown ACMG pathogenic g.89017973C>T g.89284805C>T TYR c.1118C>A p.(Thr373Lys) het TYR c.1217C>T p.(Pro406Leu) het - TYR_000065 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17001518 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Maternal (confirmed) - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P120 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P136 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P151 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Paternal (confirmed) - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P127 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Maternal (confirmed) - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #2 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P19 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #2 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Maternal (confirmed) - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P26 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #2 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P80 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #2 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P135 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown - VUS g.89017973C>T - TYR(NM_000372.4):c.1217C>T (p.P406L), TYR(NM_000372.5):c.1217C>T (p.P406L, p.(Pro406Leu)) - TYR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1217C>T r.(?) p.(Pro406Leu) Parent #2 - pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam20104 PubMed: Jackson 2020 - - - - Caribbean;black;white - - - - 1 Johan den Dunnen
+?/. 4 c.1217C>T r.(?) p.(Pro406Leu) Parent #1 ACMG likely pathogenic g.89017973C>T - - - TYR_000065 - - - - Germline - - - - - DNA SEQ-NG BLOOD - OCA alb0029 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown ACMG pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 ACMG PP3, PM2, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OAK-793 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown ACMG pathogenic (recessive) g.89017973C>T g.89284805C>T - - TYR_000065 ACMG PP3, PM2, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OA-19 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1217C>T r.(?) p.(Pro406Leu) Unknown - pathogenic g.89017973C>T - TYR(NM_000372.4):c.1217C>T (p.P406L), TYR(NM_000372.5):c.1217C>T (p.P406L, p.(Pro406Leu)) - TYR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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This database is one of the ”Eye disease” gene variant databases


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