NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys)

Variation ID: Help
14436
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 1, 2005
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys)

Allele ID:
29475
Variant type:
single nucleotide variant
Cytogenetic location:
7q36
Genomic location:
  • Chr7: 150951629 (on Assembly GRCh38)
  • Chr7: 150648717 (on Assembly GRCh37)
Protein change:
N588K, N248K
HGVS:
  • NG_008916.1:g.31298C>G
  • NM_000238.3:c.1764C>G
  • NM_172056.2:c.1764C>G
  • NM_172057.2:c.744C>G
  • NC_000007.14:g.150951629G>C (GRCh38)
  • NP_000229.1:p.Asn588Lys
  • NP_742053.1:p.Asn588Lys
  • NP_742054.1:p.Asn248Lys
  • LRG_288t1:c.1764C>G
  • LRG_288t2:c.1764C>G
  • LRG_288t3:c.744C>G
  • NC_000007.13:g.150648717G>C (GRCh37)
  • LRG_288p1:p.Asn588Lys
  • LRG_288p2:p.Asn588Lys
  • LRG_288p3:p.Asn248Lys
  • LRG_288:g.31298C>G
Links:
NCBI 1000 Genomes Browser:
rs104894021
Molecular consequence:
NM_000238.3:c.1764C>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys)

GRCh37 Chr7:150648717
Called variantsPotential variants
Sample countno data0 of 44419

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
(Apr 1, 2005)
no assertion criteria providedliterature onlygermlineOMIMSCV000035782.1
Pathogenicno assertion criteria providedliterature onlygermlineCardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation TrustSCV000089501.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided5germlinenot providednot provided
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustnot provided5germlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 29, 2016