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NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) AND Deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2018
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:
RCV000679847.1

Allele description

NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
HGVS:
  • NC_000001.11:g.216199777G>A
  • NG_009497.2:g.228672C>T
  • NM_007123.6:c.3661C>T
  • NM_206933.4:c.3661C>TMANE SELECT
  • NP_009054.6:p.Gln1221Ter
  • NP_996816.3:p.Gln1221Ter
  • NC_000001.10:g.216373119G>A
  • NG_009497.1:g.228620C>T
  • NM_206933.2:c.3661C>T
Protein change:
Q1221*
Links:
dbSNP: rs767797828
NCBI 1000 Genomes Browser:
rs767797828
Molecular consequence:
  • NM_007123.6:c.3661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.4:c.3661C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deafness
Identifiers:
MedGen: C0011053

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804838Center for Statistical Genetics, Columbia University
no assertion criteria provided
Pathogenic
(Sep 10, 2018) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV000804838.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024