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NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) AND Migraine, familial hemiplegic, 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059309.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)]

NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)
HGVS:
  • NC_000019.10:g.13371735C>T
  • NG_011569.1:g.139726G>A
  • NM_000068.4:c.584G>A
  • NM_001127221.2:c.584G>A
  • NM_001127222.2:c.584G>AMANE SELECT
  • NM_001174080.2:c.584G>A
  • NM_023035.3:c.584G>A
  • NP_000059.3:p.Arg195Lys
  • NP_001120693.1:p.Arg195Lys
  • NP_001120693.1:p.Arg195Lys
  • NP_001120694.1:p.Arg195Lys
  • NP_001167551.1:p.Arg195Lys
  • NP_075461.2:p.Arg195Lys
  • LRG_7t1:c.584G>A
  • LRG_7:g.139726G>A
  • LRG_7p1:p.Arg195Lys
  • NC_000019.9:g.13482549C>T
  • NM_001127221.1:c.584G>A
Protein change:
R195K
Links:
UniProtKB/Swiss-Prot: VAR_043820; dbSNP: rs121908222
NCBI 1000 Genomes Browser:
rs121908222
Molecular consequence:
  • NM_000068.4:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Migraine, familial hemiplegic, 1
Synonyms:
Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
Identifiers:
MONDO: MONDO:0020756; MedGen: C1832884; Orphanet: 569; OMIM: 141500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090870UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E.

N Engl J Med. 2001 Jul 5;345(1):17-24.

PubMed [citation]
PMID:
11439943

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024