NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)

Variation ID: Help
5907
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 1, 1993
Number of submission(s):
1
Condition(s):
Paramyotonia congenita of von Eulenburg[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)

Allele ID:
20946
Variant type:
single nucleotide variant
Cytogenetic location:
17q23
Genomic location:
  • Chr17: 63941984 (on Assembly GRCh38)
  • Chr17: 62019344 (on Assembly GRCh37)
Protein change:
L1433R
HGVS:
  • NG_011699.1:g.35935T>G
  • NM_000334.4:c.4298T>G
  • NP_000325.4:p.Leu1433Arg
  • NC_000017.11:g.63941984A>C (GRCh38)
  • NC_000017.10:g.62019344A>C (GRCh37)
  • P35499:p.Leu1433Arg
Links:
NCBI 1000 Genomes Browser:
rs121908550
Molecular consequence:
NM_000334.4:c.4298T>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)

GRCh37 Chr17:62019344
Called variantsPotential variants
Sample countno data0 of 33667

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
(Mar 1, 1993)
no assertion criteria providedliterature onlygermlineOMIMSCV000026452.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016