chr15:27985101:C>T Detail (hg38) (OCA2)

Information

Genome

Assembly Position
hg19 chr15:28,230,247-28,230,247 View the variant detail on this assembly version.
hg38 chr15:27,985,101-27,985,101

HGVS

Type Transcript Protein
RefSeq NM_001300984.1:c.1255G>A NP_001287913.1:p.Val419Ile
NM_000275.2:c.1327G>A NP_000266.2:p.Val443Ile
Ensemble ENST00000353809.9:c.1255G>A ENST00000353809.9:p.Val419Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 611409 OMIM
HGNC 8101 HGNC
Ensembl ENSG00000104044 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52359424 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-10-04 criteria provided, multiple submitters, no conflicts Tyrosinase-positive oculocutaneous albinism germline paternal unknown Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Tyrosinase-positive oculocutaneous albinism,SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES germline unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Tyrosinase-positive oculocutaneous albinism,SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES germline unknown Detail
Pathogenic 2023-06-30 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2020-02-22 criteria provided, single submitter germline Detail
Pathogenic 2024-02-08 criteria provided, single submitter OCA2-related disorder germline Detail
Pathogenic 2023-10-31 criteria provided, single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.563 Oculocutaneous albinism type 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND Tyrosinase-positive oculocutaneous albinism ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND not provided ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND multiple conditions ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND multiple conditions ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND Inborn genetic diseases ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND See cases ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND OCA2-related disorder ClinVar Detail
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ClinVar Detail
NA 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
rs121918166 dbSNP
Genome
hg38
Position
chr15:27,985,101-27,985,101
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121918166
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8588
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.328830926874709E-4
Chromosome Counts in All Race (ExAC)
119462
Allele Counts in All Race (ExAC)
340
Heterozygous Counts in All Race (ExAC)
338
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.002846093318377392
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