NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu) AND Deafness, autosomal recessive

Clinical significance:Likely pathogenic

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:
RCV001291241.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)]

NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)

Genes:
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
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.71G>T (p.Arg24Leu)
HGVS:
  • NC_000007.14:g.107661712G>T
  • NG_008489.1:g.6078G>T
  • NM_000441.2:c.71G>TMANE SELECT
  • NP_000432.1:p.Arg24Leu
  • NC_000007.13:g.107302157G>T
  • NM_000441.1:c.71G>T
  • NR_028137.1:n.87C>A
Protein change:
R24L
Molecular consequence:
  • NM_000441.2:c.71G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028137.1:n.87C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Deafness, autosomal recessive
Synonyms:
Autosomal recessive nonsyndromic deafness; Autosomal recessive non-syndromic sensorineural deafness type DFNB
Identifiers:
MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001479666University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics., Schrauwen I, Khan SN, Morell RJ, Zafar S, et al.

Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18.

PubMed [citation]
PMID:
30303587
PMCID:
PMC6296877

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479666.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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