NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Oct 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624879.1

Allele description [Variation Report for NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)]

NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
HGVS:
  • NC_000010.11:g.71812781G>A
  • NG_008835.1:g.420835G>A
  • NM_001171933.1:c.2804G>A
  • NM_001171934.1:c.2804G>A
  • NM_001171935.1:c.215G>A
  • NM_001171936.1:c.215G>A
  • NM_022124.6:c.9524G>AMANE SELECT
  • NP_001165404.1:p.Arg935His
  • NP_001165405.1:p.Arg935His
  • NP_001165406.1:p.Arg72His
  • NP_001165407.1:p.Arg72His
  • NP_071407.4:p.Arg3175His
  • NC_000010.10:g.73572538G>A
  • NM_022124.5:c.9524G>A
Protein change:
R3175H
Links:
dbSNP: rs140884994
NCBI 1000 Genomes Browser:
rs140884994
Molecular consequence:
  • NM_001171933.1:c.2804G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.2804G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171935.1:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171936.1:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.9524G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742727Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Oct 11, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic/Mexicangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, et al.

Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

PubMed [citation]
PMID:
12075507
PMCID:
PMC379159

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.

Clin Genet. 2007 Oct;72(4):339-44.

PubMed [citation]
PMID:
17850630

Details of each submission

From Ambry Genetics, SCV000742727.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic/Mexican1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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