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NM_000372.5(TYR):c.739T>C (p.Cys247Arg) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000133603.3

Allele description [Variation Report for NM_000372.5(TYR):c.739T>C (p.Cys247Arg)]

NM_000372.5(TYR):c.739T>C (p.Cys247Arg)

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.5(TYR):c.739T>C (p.Cys247Arg)
HGVS:
  • NC_000011.10:g.89178692T>C
  • NG_008748.1:g.5821T>C
  • NM_000372.5:c.739T>CMANE SELECT
  • NP_000363.1:p.Cys247Arg
  • NC_000011.9:g.88911860T>C
  • NM_000372.4:c.739T>C
Protein change:
C247R
Links:
dbSNP: rs367543068
NCBI 1000 Genomes Browser:
rs367543068
Molecular consequence:
  • NM_000372.5:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tyrosinase-negative oculocutaneous albinism (OCA1A)
Synonyms:
Oculocutaneous albinism type 1A; Albinism, oculocutaneous, type IA
Identifiers:
MONDO: MONDO:0008745; MedGen: C4551504; Orphanet: 352731; Orphanet: 79431; OMIM: 203100
Name:
Oculocutaneous albinism type 1B (OCA1B)
Synonyms:
ALBINISM, OCULOCUTANEOUS, TYPE IB; Albinism, yellow mutant type; Yellow albinism
Identifiers:
MONDO: MONDO:0011749; MedGen: C1847024; Orphanet: 352731; Orphanet: 352737; Orphanet: 79434; OMIM: 606952

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188661Laboratorio de Genetica Humana; Universidad de los Andes
no classification provided
untestedunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Laboratorio de Genetica Humana; Universidad de los Andes, SCV000188661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to not provided.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024