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NM_000238.3(KCNH2):c.3331-13del

Variation ID: Help
200264
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Apr 18, 2012
Number of submission(s):
1
Condition(s):
Cardiac arrhythmia[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000238.3(KCNH2):c.3331-13del

Allele ID:
197133
Variant type:
Deletion
Cytogenetic location:
7q36.1
Genomic location:
  • Chr7: 150945527 (on Assembly GRCh38)
  • Chr7: 150642615 (on Assembly GRCh37)
HGVS:
  • NM_000238.3:c.3331-13del
  • NM_172057.2:c.2311-13del
  • NC_000007.14:g.150945527delC (GRCh38)
  • LRG_288t1:c.3331-13del
  • LRG_288t3:c.2311-13del
  • NC_000007.13:g.150642615delC (GRCh37)
  • NM_000238.2:c.3331-13delG
  • LRG_288:g.37400del
Links:
NCBI 1000 Genomes Browser:
rs794728348
Molecular consequence:
NM_000238.3:c.3331-13del: intron variant [Sequence Ontology SO:0001627]

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
Benign
(Apr 18, 2012)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000234049.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe variant is found in LQT pa…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 21, 2019

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