chr11:88924446:G>A Detail (hg19) (TYR)

Information

Genome

Assembly Position
hg19 chr11:88,924,446-88,924,446
hg38 chr11:89,191,278-89,191,278 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000372.4:c.896G>A NP_000363.1:p.Arg299His
Ensemble ENST00000263321.6:c.896G>A ENST00000263321.6:p.Arg299His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606933 OMIM
HGNC 12442 HGNC
Ensembl ENSG00000077498 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5168422 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-07-22 criteria provided, multiple submitters, no conflicts Tyrosinase-negative oculocutaneous albinism germline Detail
Pathogenic 2024-01-11 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2017-03-07 no assertion criteria provided Nonsyndromic Oculocutaneous Albinism unknown Detail
Pathogenic 2022-12-21 criteria provided, single submitter unknown Detail
Pathogenic 2023-10-29 criteria provided, single submitter SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN unknown Detail
Pathogenic 2023-10-31 criteria provided, single submitter Tyrosinase-negative oculocutaneous albinism,Oculocutaneous albinism type 1B unknown Detail
Pathogenic 2023-10-31 criteria provided, single submitter Tyrosinase-negative oculocutaneous albinism,Oculocutaneous albinism type 1B unknown Detail
Pathogenic 2023-12-08 criteria provided, single submitter oculocutaneous albinism germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Oculocutaneous albinism type 1 NA CLINVAR Detail
0.573 Oculocutaneous albinism type 1 Although tyrosinase mutations of OCA1 have been extensively analyzed in most pop... UNIPROT 10571953 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND Tyrosinase-negative oculocutaneous albinism ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND not provided ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND Nonsyndromic Oculocutaneous Albinism ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND See cases ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND multiple conditions ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND multiple conditions ClinVar Detail
NM_000372.5(TYR):c.896G>A (p.Arg299His) AND Oculocutaneous albinism ClinVar Detail
NA DisGeNET Detail
Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs61754375 dbSNP
Genome
hg19
Position
chr11:88,924,446-88,924,446
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4698126301179735E-4
Chromosome Counts in All Race (ExAC)
121234
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.4236600293647E-5
Genome browser