NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) AND Episodic ataxia type 2

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059291.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)]

NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)

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.1499C>T (p.Thr500Met)
HGVS:
  • NC_000019.10:g.13317168G>A
  • NG_011569.1:g.194293C>T
  • NM_000068.4:c.1502C>T
  • NM_001127221.1:c.1502C>T
  • NM_001127221.2:c.1502C>T
  • NM_001127222.2:c.1499C>TMANE SELECT
  • NM_001174080.2:c.1502C>T
  • NM_023035.3:c.1502C>T
  • NP_000059.3:p.Thr501Met
  • NP_001120693.1:p.Thr501Met
  • NP_001120693.1:p.Thr501Met
  • NP_001120694.1:p.Thr500Met
  • NP_001167551.1:p.Thr501Met
  • NP_075461.2:p.Thr501Met
  • LRG_7t1:c.1502C>T
  • LRG_7:g.194293C>T
  • LRG_7p1:p.Thr501Met
  • NC_000019.9:g.13427982G>A
  • NM_000068.2:c.1502C>T
Protein change:
T500M
Links:
UniProtKB/Swiss-Prot: VAR_063687; dbSNP: rs121908240
NCBI 1000 Genomes Browser:
rs121908240
Molecular consequence:
  • NM_000068.4:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.1:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.1499C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Episodic ataxia type 2 (EA2)
Synonyms:
Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia; Cerebellopathy, hereditary paroxysmal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090840UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

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

Summary from all submissions

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

Citations

PubMed

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2.

PubMed [citation]
PMID:
20129625

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090840.1

#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: Oct 24, 2021

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