NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) AND Nonsyndromic Oculocutaneous Albinism

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 7, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000755096.1

Allele description [Variation Report for NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)]

NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)

Genes:

LURAP1L-AS1:LURAP1L antisense RNA 1 [Gene - HGNC]
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p23

Genomic location:

Preferred name:

NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)

Other names:

R356E

HGVS:

NC_000009.12:g.12702424G>A
NG_011705.1:g.14039G>A
NM_000550.3:c.1067G>AMANE SELECT
NP_000541.1:p.Arg356Gln
NC_000009.11:g.12702424G>A
NM_000550.2:c.1067G>A
P17643:p.Arg356Gln

Protein change:

R356Q; ARG356GLU

Links:

UniProtKB: P17643#VAR_026828; OMIM: 115501.0004; dbSNP: rs281865424

NCBI 1000 Genomes Browser:

rs281865424

Molecular consequence:

NM_000550.3:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Nonsyndromic Oculocutaneous Albinism
Identifiers:: MedGen: CN263337

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882914	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic (Mar 7, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882914

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic
(Mar 7, 2017)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	3	not provided	not provided	not provided	not provided	research

Citations

PubMed

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium..

Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185.

PubMed [citation]

PMID:: 28266639
PMCID:: PMC5339803

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882914.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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