NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) AND Episodic ataxia type 2

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000990165.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)]

NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)

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.5897G>A (p.Arg1966Gln)
HGVS:
  • NC_000019.10:g.13214276C>T
  • NG_011569.1:g.297185G>A
  • NM_000068.4:c.5915G>A
  • NM_001127221.1:c.5900G>A
  • NM_001127221.2:c.5900G>A
  • NM_001127222.2:c.5897G>AMANE SELECT
  • NM_001174080.2:c.5906G>A
  • NM_023035.3:c.5915G>A
  • NP_000059.3:p.Arg1972Gln
  • NP_001120693.1:p.Arg1967Gln
  • NP_001120693.1:p.Arg1967Gln
  • NP_001120694.1:p.Arg1966Gln
  • NP_001167551.1:p.Arg1969Gln
  • NP_075461.2:p.Arg1972Gln
  • LRG_7t1:c.5900G>A
  • LRG_7:g.297185G>A
  • LRG_7p1:p.Arg1967Gln
  • NC_000019.9:g.13325090C>T
  • NM_000068.2:c.5900G>A
  • NM_023035.2:c.5915G>A
Protein change:
R1966Q
Links:
dbSNP: rs199886234
NCBI 1000 Genomes Browser:
rs199886234
Molecular consequence:
  • NM_000068.4:c.5915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.1:c.5900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.5900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.5897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.5906G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.5915G>A - 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
SCV001141008Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001141008.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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