NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) AND Retinitis pigmentosa 39

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2007)

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:
RCV000002458.4

Allele description [Variation Report for NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)]

NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
HGVS:
  • NC_000001.11:g.215671085T>C
  • NG_009497.1:g.757312A>G
  • NG_009497.2:g.757364A>G
  • NM_206933.4:c.14020A>GMANE SELECT
  • NP_996816.3:p.Arg4674Gly
  • NC_000001.10:g.215844427T>C
  • NM_206933.2:c.14020A>G
  • O75445:p.Arg4674Gly
Protein change:
R4674G; ARG4674GLY
Links:
UniProtKB: O75445#VAR_038369; OMIM: 608400.0012; dbSNP: rs80338904
NCBI 1000 Genomes Browser:
rs80338904
Molecular consequence:
  • NM_206933.4:c.14020A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022616OMIMno assertion criteria providedPathogenic
(Feb 1, 2007)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

Kaiserman N, Obolensky A, Banin E, Sharon D.

Arch Ophthalmol. 2007 Feb;125(2):219-24. Erratum in: Arch Ophthalmol. 2007 Aug;125(8):1013.

PubMed [citation]
PMID:
17296898

Details of each submission

From OMIM, SCV000022616.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the arg4674-to-gly (R4674G) mutation in the USH2A gene that was found in compound heterozygous state in a family in which some members had Usher syndrome type IIa (USH2A; 276901) and others had nonsyndromic retinitis pigmentosa (RP39; 613809) by Kaiserman et al. (2007), see 608400.0010.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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