NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) AND Deafness, autosomal dominant 11

Clinical significance:Pathogenic (Last evaluated: Feb 16, 2016)

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:
RCV000225087.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)]

NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
HGVS:
  • NC_000011.10:g.77156958C>T
  • NG_009086.1:g.33695C>T
  • NG_009086.2:g.33713C>T
  • NM_000260.4:c.689C>TMANE SELECT
  • NM_001127180.2:c.689C>T
  • NM_001369365.1:c.656C>T
  • NP_000251.3:p.Ala230Val
  • NP_001120652.1:p.Ala230Val
  • NP_001356294.1:p.Ala219Val
  • LRG_1420t1:c.689C>T
  • LRG_1420:g.33713C>T
  • LRG_1420p1:p.Ala230Val
  • NC_000011.9:g.76868004C>T
  • NM_000260.3:c.689C>T
Protein change:
A219V
Links:
dbSNP: rs797044512
NCBI 1000 Genomes Browser:
rs797044512
Molecular consequence:
  • NM_000260.4:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.656C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal dominant 11 (DFNA11)
Identifiers:
MONDO: MONDO:0011032; MedGen: C1832475; Orphanet: 90635; OMIM: 601317

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281977Laboratory of Prof. Karen Avraham,Tel Aviv Universityno assertion criteria providedPathogenic
(Feb 16, 2016)
germlineresearch

Description

NSHL; dominant, DFNA11

SCV000281977

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Prof. Karen Avraham,Tel Aviv University, SCV000281977.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

childhood onset, progressive HL, also myopia

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

Last Updated: Nov 20, 2021

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