NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) AND Retinitis pigmentosa

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2015)

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:
RCV000505157.1

Allele description [Variation Report for NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)]

NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
HGVS:
  • NC_000001.11:g.216000442G>T
  • NC_000001.11:g.216000442G>T
  • NG_009497.1:g.427955C>A
  • NG_009497.2:g.428007C>A
  • NM_206933.4:c.6446C>AMANE SELECT
  • NP_996816.3:p.Pro2149Gln
  • NC_000001.10:g.216173784G>T
  • NM_206933.2:c.6446C>A
  • NM_206933.3(USH2A):c.6446C>A
  • p.Pro2149Gln
Protein change:
P2149Q
Links:
dbSNP: rs869312182
NCBI 1000 Genomes Browser:
rs869312182
Molecular consequence:
  • NM_206933.4:c.6446C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000598820NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedLikely pathogenic
(Jan 1, 2015)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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