NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) AND Retinitis pigmentosa

Clinical significance:Pathogenic

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:
RCV000132708.1

Allele description [Variation Report for NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)]

NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
HGVS:
  • NC_000001.11:g.215634523G>C
  • NG_009497.1:g.793874C>G
  • NG_009497.2:g.793926C>G
  • NM_206933.4:c.15233C>GMANE SELECT
  • NP_996816.3:p.Pro5078Arg
  • NC_000001.10:g.215807865G>C
  • NM_206933.2:c.15233C>G
Protein change:
P5078R
Links:
dbSNP: rs527236122
NCBI 1000 Genomes Browser:
rs527236122
Molecular consequence:
  • NM_206933.4:c.15233C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172661Department of Ophthalmology and Visual Sciences Kyoto Universityno assertion criteria providedpathogenicnot providednot provided

Summary from all submissions

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

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172661.1

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

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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