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

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804827	Center for Statistical Genetics, Columbia University	no assertion criteria provided	Pathogenic (Sep 10, 2018)	inherited	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804827

Center for Statistical Genetics, Columbia University

no assertion criteria provided

Pathogenic
(Sep 10, 2018)

inherited

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV000804827.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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