NM_000441.2(SLC26A4):c.1264-3C>G 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:
RCV000679836.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1264-3C>G]

NM_000441.2(SLC26A4):c.1264-3C>G

Gene:
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.1264-3C>G
HGVS:
  • NC_000007.14:g.107694400C>G
  • NG_008489.1:g.38766C>G
  • NM_000441.2:c.1264-3C>GMANE SELECT
  • NC_000007.13:g.107334845C>G
  • NM_000441.1:c.1264-3C>G
Links:
dbSNP: rs1562835391
NCBI 1000 Genomes Browser:
rs1562835391
Molecular consequence:
  • NM_000441.2:c.1264-3C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000804827Center for Statistical Genetics, Columbia Universityno assertion criteria providedPathogenic
(Sep 10, 2018)
inheritedresearch

Description

Autosomal recessive

SCV000804827

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, SCV000804827.1

#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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