NM_022124.5(CDH23):c.4021G>A (p.Asp1341Asn) AND Deafness, autosomal recessive 12

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2003)

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:
RCV000005205.4

Allele description [Variation Report for NM_022124.5(CDH23):c.4021G>A (p.Asp1341Asn)]

NM_022124.5(CDH23):c.4021G>A (p.Asp1341Asn)

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.5(CDH23):c.4021G>A (p.Asp1341Asn)
HGVS:
  • NC_000010.11:g.71732292G>A
  • NG_008835.1:g.340346G>A
  • NM_022124.5:c.4021G>A
  • NP_071407.4:p.Asp1341Asn
  • NC_000010.10:g.73492049G>A
Protein change:
D1341N; ASP1341ASN
Links:
OMIM: 605516.0009; dbSNP: rs121908351
NCBI 1000 Genomes Browser:
rs121908351
Molecular consequence:
  • NM_022124.5:c.4021G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 12 (DFNB12)
Identifiers:
MedGen: C1832394; Orphanet: 90636; OMIM: 601386

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025382OMIMno assertion criteria providedPathogenic
(Feb 1, 2003)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H.

Hum Genet. 2003 Feb;112(2):156-63. Epub 2002 Oct 29.

PubMed [citation]
PMID:
12522556

Details of each submission

From OMIM, SCV000025382.3

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

Description

For discussion of the asp1341-to-asn (D1341N) mutation in the CDH23 gene that was found in compound heterozygous state in patients with autosomal recessive deafness-12 (DFNB12; 601386) by de Brouwer et al. (2003), see 605516.0008.

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

Last Updated: Jun 17, 2019

Support Center