NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) AND Pendred syndrome

Clinical significance:Uncertain significance (Last evaluated: Dec 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664751.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)]

NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)

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.128G>A (p.Arg43His)
HGVS:
  • NC_000007.14:g.107661769G>A
  • NG_008489.1:g.6135G>A
  • NM_000441.2:c.128G>AMANE SELECT
  • NP_000432.1:p.Arg43His
  • NC_000007.13:g.107302214G>A
  • NM_000441.1:c.128G>A
  • NR_028137.1:n.30C>T
Protein change:
R43H
Links:
dbSNP: rs372116042
NCBI 1000 Genomes Browser:
rs372116042
Molecular consequence:
  • NM_000441.2:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028137.1:n.30C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Pendred syndrome (PDS)
Synonyms:
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788760Counsylcriteria provided, single submitter
Uncertain significance
(Dec 29, 2016)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Etiology and audiological outcomes at 3 years for 364 children in Australia.

Dahl HH, Ching TY, Hutchison W, Hou S, Seeto M, Sjahalam-King J.

PLoS One. 2013;8(3):e59624. doi: 10.1371/journal.pone.0059624. Epub 2013 Mar 28.

PubMed [citation]
PMID:
23555729
PMCID:
PMC3610796

Details of each submission

From Counsyl, SCV000788760.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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