NM_000372.5(TYR):c.230G>A (p.Arg77Gln) AND Oculocutaneous albinism type 1B

Clinical significance:Pathogenic (Last evaluated: Jan 29, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000984954.1

Allele description [Variation Report for NM_000372.5(TYR):c.230G>A (p.Arg77Gln)]

NM_000372.5(TYR):c.230G>A (p.Arg77Gln)

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
Other names:
R59Q
HGVS:
  • NC_000011.10:g.89178183G>A
  • NG_008748.1:g.5312G>A
  • NM_000372.5:c.230G>AMANE SELECT
  • NP_000363.1:p.Arg77Gln
  • NC_000011.9:g.88911351G>A
  • NM_000372.4:c.230G>A
  • P14679:p.Arg77Gln
Protein change:
R77Q; ARG59GLN
Links:
UniProtKB: P14679#VAR_007655; OMIM: 606933.0005; OMIM: 606933.0010; dbSNP: rs61753185
NCBI 1000 Genomes Browser:
rs61753185
Molecular consequence:
  • NM_000372.5:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001132868Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedPathogenic
(Jan 29, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001132868.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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