NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) AND Retinal dystrophy

Clinical significance:Uncertain significance

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:
RCV000225553.1

Allele description [Variation Report for NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)]

NM_206933.3(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_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)
HGVS:
  • NC_000001.11:g.216000442G>T
  • NG_009497.1:g.427955C>A
  • NM_206933.3:c.6446C>A
  • NP_996816.2: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_206933.3:c.6446C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000282656Centre for Genomic Medicine, Manchester,Central Manchester University Hospitalsno assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals, SCV000282656.1

#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: Oct 8, 2021

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