NM_004700.3(KCNQ4):c.842T>C (p.Leu281Ser)

Variation ID: Help
6246
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 17, 2011
Number of submission(s):
2
Condition(s):
DFNA 2 Nonsyndromic Hearing Loss[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004700.3(KCNQ4):c.842T>C (p.Leu281Ser)

Allele ID:
21285
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
  • Chr1: 40819882 (on Assembly GRCh38)
  • Chr1: 41285554 (on Assembly GRCh37)
Protein change:
L281S
HGVS:
  • NG_008139.1:g.40871T>C
  • NM_004700.3:c.842T>C
  • NP_004691.2:p.Leu281Ser
  • NC_000001.11:g.40819882T>C (GRCh38)
  • NC_000001.10:g.41285554T>C (GRCh37)
  • NM_004700.2:c.842T>C
  • P56696:p.Leu281Ser
Links:
NCBI 1000 Genomes Browser:
rs80358278
Molecular consequence:
NM_004700.3:c.842T>C: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 14, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000026807.1
Pathogenic
(Feb 17, 2011)
no assertion criteria providedliterature only
  • DFNA 2 Nonsyndromic Hearing Loss (Autosomal dominant inheritance)[MedGen | OMIM]
not providedGeneReviewsSCV000041115.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 30, 2017