NM_000372.5(TYR):c.902C>T (p.Pro301Leu) AND Oculocutaneous albinism type 1

Clinical significance:Likely pathogenic (Last evaluated: Sep 11, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000186574.2

Allele description [Variation Report for NM_000372.5(TYR):c.902C>T (p.Pro301Leu)]

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

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.5(TYR):c.902C>T (p.Pro301Leu)
HGVS:
  • NC_000011.10:g.89191284C>T
  • NG_008748.1:g.18413C>T
  • NM_000372.5:c.902C>TMANE SELECT
  • NP_000363.1:p.Pro301Leu
  • NC_000011.9:g.88924452C>T
  • NM_000372.4:c.902C>T
Protein change:
P301L
Links:
dbSNP: rs796051880
NCBI 1000 Genomes Browser:
rs796051880
Molecular consequence:
  • NM_000372.5:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Oculocutaneous albinism type 1 (OCA1A)
Synonyms:
Albinism 1; ALBINISM I
Identifiers:
MONDO: MONDO:0018135; MedGen: C0268494

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222098Science and Research Branch, Islamic Azad University,Islamic Azad Universitycriteria provided, single submitter
Likely pathogenic
(Sep 11, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.

Mol Vis. 2015;21:730-5.

PubMed [citation]
PMID:
26167114
PMCID:
PMC4499471

Details of each submission

From Science and Research Branch, Islamic Azad University,Islamic Azad University, SCV000222098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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