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NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) AND Autosomal recessive nonsyndromic hearing loss 24

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2007
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:
RCV000014072.17

Allele description

NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)

Gene:
RDX:radixin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)
HGVS:
  • NC_000011.10:g.110231889C>T
  • NG_023044.2:g.69824G>A
  • NM_001260492.2:c.1732G>A
  • NM_001260493.2:c.1732G>A
  • NM_001260494.2:c.1324G>A
  • NM_001260495.2:c.691G>A
  • NM_001260496.2:c.520G>A
  • NM_002906.4:c.1732G>AMANE SELECT
  • NP_001247421.1:p.Asp578Asn
  • NP_001247422.1:p.Asp578Asn
  • NP_001247423.1:p.Asp442Asn
  • NP_001247424.1:p.Asp231Asn
  • NP_001247425.1:p.Asp174Asn
  • NP_002897.1:p.Asp578Asn
  • NC_000011.9:g.110102614C>T
  • P35241:p.Asp578Asn
Protein change:
D174N; ASP578ASN
Links:
UniProtKB: P35241#VAR_036859; OMIM: 179410.0001; dbSNP: rs121918379
NCBI 1000 Genomes Browser:
rs121918379
Molecular consequence:
  • NM_001260492.2:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260493.2:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260494.2:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260495.2:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260496.2:c.520G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002906.4:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 24
Synonyms:
Deafness, autosomal recessive 24
Identifiers:
MONDO: MONDO:0012602; MedGen: C1970239; Orphanet: 90636; OMIM: 611022

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034319OMIM
no assertion criteria provided
Pathogenic
(May 1, 2007) 		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 of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S.

Hum Mutat. 2007 May;28(5):417-23.

PubMed [citation]
PMID:
17226784

Details of each submission

From OMIM, SCV000034319.1

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

Description

In 2 affected sisters from a consanguineous Pakistani family with autosomal recessive deafness-24 (DFNB24; 611022), Khan et al. (2007) identified a homozygous 1732G-A transition in exon 14 of the RDX gene, resulting in an asp578-to-asn (D578N) substitution predicted to disrupt the actin binding domain of radixin. The mutation was not identified in 200 ethnically matched chromosomes.

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

Last Updated: Apr 23, 2022