Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000372.5(TYR):c.902C>T (p.Pro301Leu)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 17, 2015)
Last evaluated:
Sep 11, 2014
Accession:
VCV000190217.2
Variation ID:
190217
Description:
single nucleotide variant
Help

NM_000372.5(TYR):c.902C>T (p.Pro301Leu)

Allele ID
188044
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q14.3
Genomic location
11: 89191284 (GRCh38) GRCh38 UCSC
11: 88924452 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.89191284C>T
NC_000011.9:g.88924452C>T
NG_008748.1:g.18413C>T
NM_000372.5:c.902C>T MANE Select NP_000363.1:p.Pro301Leu missense
Protein change
P301L
Other names
-
Canonical SPDI
NC_000011.10:89191283:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA275917
dbSNP: rs796051880
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 11, 2014 RCV000186574.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TYR - - GRCh38
GRCh37
232 251

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 11, 2014)
criteria provided, single submitter
Method: clinical testing
OCA1
Allele origin: germline
Science and Research Branch, Islamic Azad University,Islamic Azad University
Accession: SCV000222098.1
Submitted: (Apr 17, 2015)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. Khordadpoor-Deilamani F Molecular vision 2015 PMID: 26167114

Text-mined citations for rs796051880...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021