NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) AND Deafness

Clinical significance:Pathogenic (Last evaluated: Sep 10, 2018)

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:
RCV000679839.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)]

NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)

Genes:
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)
HGVS:
  • NC_000007.14:g.107661795A>T
  • NG_008489.1:g.6161A>T
  • NM_000441.2:c.154A>TMANE SELECT
  • NP_000432.1:p.Lys52Ter
  • NC_000007.13:g.107302240A>T
  • NM_000441.1:c.154A>T
  • NR_028137.1:n.4T>A
Protein change:
K52*
Links:
dbSNP: rs1562817529
NCBI 1000 Genomes Browser:
rs1562817529
Molecular consequence:
  • NR_028137.1:n.4T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000441.2:c.154A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deafness
Identifiers:
MedGen: C0011053

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804830Center for Statistical Genetics, Columbia Universityno assertion criteria providedPathogenic
(Sep 10, 2018)
inheritedresearch

Description

Autosomal recessive

SCV000804830

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, SCV000804830.1

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

Last Updated: Sep 6, 2021

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