Full data view for gene TYR

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

13 entries on 1 page. Showing entries 1 - 13.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.732_733del r.(?) p.(Cys244*) Paternal (confirmed) - pathogenic g.88911853_88911854del g.89178685_89178686del 730_731del - TYR_000021 copied from the “Albanism Database” (University of Minnesota) PubMed: Coupry 2001 - rs61754368 Germline yes - - - - DNA FISH, PCR, SEQ - - OCA1A - PubMed: Coupry 2001 2-generation family, 1 affected, unaffected heterozygous carrier father/non-carreir mother M no France French - - - - 1 William (Bill) Oetting
+/. 1 c.732_733del r.(?) p.(Cys244*) Parent #1 - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del 732_733delTG - TYR_000021 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS OCA 28771251-Pat70 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.732_733del r.(?) p.(Cys244Ter) Unknown - pathogenic g.88911853_88911854del g.89178685_89178686del TYR(NM_000372.4):c.732_733delTG (p.C244*), TYR(NM_000372.5):c.732_733delTG (p.C244*) - TYR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.732_733del r.(?) p.(Cys244Ter) Unknown - VUS g.88911853_88911854del g.89178685_89178686del TYR(NM_000372.4):c.732_733delTG (p.C244*), TYR(NM_000372.5):c.732_733delTG (p.C244*) - TYR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.732_733del r.(?) p.(Cys244*) Unknown ACMG pathogenic g.88911853_88911854del g.89178685_89178686del - - TYR_000021 ACMG: PVS1,PM2,PM3; Oetting et al. 1991. Am J Hum Genet 49: 199 - - rs606231140 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Parent #1 - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Maternal (confirmed) - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P30 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Parent #1 - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P31 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Paternal (confirmed) - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P66 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Maternal (confirmed) - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P71 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Parent #1 - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P89 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.732_733del r.(?) p.(Cys244Ter) Parent #2 - pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P105 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.732_733del r.(?) p.(Cys244Ter) Unknown ACMG pathogenic (recessive) g.88911853_88911854del g.89178685_89178686del - - TYR_000021 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OA-18 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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This database is one of the ”Eye disease” gene variant databases


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