NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)

NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)

Variant type:
single nucleotide variant
Cytogenetic location:
17q23
Genomic location:
  • Chr17:63957427 (on Assembly GRCh38)
  • Chr17:62034787 (on Assembly GRCh37)
Protein change:
T704M
HGVS:
  • NG_011699.1:g.20492C>T
  • NM_000334.4:c.2111C>T
  • NC_000017.11:g.63957427G>A (GRCh38)
  • NP_000325.4:p.Thr704Met
  • NC_000017.10:g.62034787G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs80338957
Molecular consequence:
NM_000334.4:c.2111C>T: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
3
Condition(s)
  • Familial hyperkalemic periodic paralysis[MedGen - Orphanet]
  • Paramyotonia congenita/hyperkalemic periodic paralysis
  • Hyperkalemic Periodic Paralysis Type 1[MedGen - OMIM]
See supporting ClinVar records

1 Affected gene

Browser views

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Feb 10, 2015)
no assertion criteria providedliterature onlygermlinePubMed (6)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000026436
Pathogenic
(Feb 10, 2015)
no assertion criteria providedliterature only
  • Paramyotonia congenita/hyperkalemic periodic paralysis
germlinePubMed (6)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000026437
Pathogenic
(May 31, 2011)
no assertion criteria providedliterature only
  • Hyperkalemic Periodic Paralysis Type 1[MedGen | OMIM]
not providedPubMed (1)
[See all records that cite this PMID]
GeneReviews

(Jan 8, 2013)

SCV000040621
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedPubMednot provided
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
GeneReviewsnot providednot providedHyperkalemic Periodic Paralysis Type 1 (not provided)not providednot providedPubMednot provided
OMIMgermlinenot providedFamilial hyperkalemic periodic paralysis (not provided)not providednot providedPubMedHisama (2005) described a 7-generation family in which multiple members were affected with a complicated neurologic phenotype including variable featu…Full description
OMIMgermlinenot providedParamyotonia congenita/hyperkalemic periodic paralysis (not provided)not providednot providedPubMedHisama (2005) described a 7-generation family in which multiple members were affected with a complicated neurologic phenotype including variable featu…Full description

Last Updated: Jul 23, 2015