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NM_001035.2(RYR2):c.14579C>G (p.Ala4860Gly)

Variation ID: Help
12963
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 13, 2007
Number of submission(s):
1
Condition(s):
Catecholaminergic polymorphic ventricular tachycardia type 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001035.2(RYR2):c.14579C>G (p.Ala4860Gly)

Allele ID:
28002
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
  • Chr1: 237819181 (on Assembly GRCh38)
  • Chr1: 237982481 (on Assembly GRCh37)
Protein change:
A4860G
HGVS:
  • NG_008799.2:g.781780C>G
  • NM_001035.2:c.14579C>G
  • NP_001026.2:p.Ala4860Gly
  • NC_000001.11:g.237819181C>G (GRCh38)
  • NC_000001.10:g.237982481C>G (GRCh37)
  • NG_008799.1:g.781780C>G
  • Q92736:p.Ala4860Gly
Links:
NCBI 1000 Genomes Browser:
rs121918606
Molecular consequence:
NM_001035.2:c.14579C>G: missense variant [Sequence Ontology SO:0001583]

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
(Nov 13, 2007)
no assertion criteria providedliterature only
  • Catecholaminergic polymorphic ventricular tachycardia type 1[MedGen | OMIM]
germlineOMIMSCV000034076.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 14, 2017