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NM_004086.3(COCH):c.326T>A (p.Ile109Asn) AND Autosomal dominant nonsyndromic hearing loss 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2003
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:
RCV000006991.4

Allele description [Variation Report for NM_004086.3(COCH):c.326T>A (p.Ile109Asn)]

NM_004086.3(COCH):c.326T>A (p.Ile109Asn)

Genes:
COCH:cochlin [Gene - OMIM - HGNC]
LOC100506071:uncharacterized LOC100506071 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_004086.3(COCH):c.326T>A (p.Ile109Asn)
HGVS:
  • NC_000014.9:g.30878897T>A
  • NG_008211.2:g.9363T>A
  • NM_001135058.2:c.326T>A
  • NM_001347720.2:c.521T>A
  • NM_004086.3:c.326T>AMANE SELECT
  • NP_001128530.1:p.Ile109Asn
  • NP_001334649.1:p.Ile174Asn
  • NP_004077.1:p.Ile109Asn
  • NC_000014.8:g.31348103T>A
  • O43405:p.Ile109Asn
Protein change:
I109N; ILE109ASN
Links:
UniProtKB: O43405#VAR_008535; OMIM: 603196.0005; dbSNP: rs121908930
NCBI 1000 Genomes Browser:
rs121908930
Molecular consequence:
  • NM_001135058.2:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347720.2:c.521T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004086.3:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 9
Synonyms:
Deafness, autosomal dominant 9
Identifiers:
MONDO: MONDO:0011058; MedGen: C1832425; Orphanet: 90635; OMIM: 601369

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027187OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2003) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.

Grabski R, Szul T, Sasaki T, Timpl R, Mayne R, Hicks B, Sztul E.

Hum Genet. 2003 Oct;113(5):406-16. Epub 2003 Aug 20.

PubMed [citation]
PMID:
12928864

Details of each submission

From OMIM, SCV000027187.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Grabski et al. (2003) tested the behavior of the ile109-to-asn mutation of COCH found in DFNA9 (601369) in transient transfection systems. They found that the I109N mutant, like V66G (603196.0001) and G88E (603196.0002), showed none of the normal extracellular deposits.

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

Last Updated: May 12, 2024