NM_000217.2(KCNA1):c.530T>A (p.Ile177Asn) AND Episodic ataxia type 1

Clinical significance:Pathogenic (Last evaluated: Apr 1, 1998)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000014432.25

Allele description [Variation Report for NM_000217.2(KCNA1):c.530T>A (p.Ile177Asn)]

NM_000217.2(KCNA1):c.530T>A (p.Ile177Asn)

Gene:
KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_000217.2(KCNA1):c.530T>A (p.Ile177Asn)
HGVS:
  • NC_000012.12:g.4911908T>A
  • NG_011815.1:g.7002T>A
  • NM_000217.2:c.530T>A
  • NP_000208.2:p.Ile177Asn
  • NC_000012.11:g.5021074T>A
Protein change:
I177N; ILE177ASN
Links:
OMIM: 176260.0009; dbSNP: rs267607195
NCBI 1000 Genomes Browser:
rs267607195
Molecular consequence:
  • NM_000217.2:c.530T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Episodic ataxia type 1 (EA1)
Synonyms:
ATAXIA, EPISODIC, WITH MYOKYMIA; MYOKYMIA WITH PERIODIC ATAXIA; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
Identifiers:
MedGen: C1719788; Orphanet: 972; OMIM: 160120

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034681OMIMno assertion criteria providedPathogenic
(Apr 1, 1998)
germlineliterature only

Scheffer, H., Brunt, E. R. P., Mol, G. J. J., van der Vlies, P., Stulp, R. P., Verlind, E., Mantel, G., Averyanov, Y. N., Hofstra, R. M. W., Buys, C. H. C. M. Three novel KCNA1 mutations in episodic ataxia type 1 families. Hum. Genet. 102: 464-466, 1998. Note: Erratum: Hum. Genet. 102: 713 only, 1998.

Summary from all submissions

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

Details of each submission

From OMIM, SCV000034681.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In affected members of a family with episodic ataxia (160120), Scheffer et al. (1998) identified heterozygosity for a T-to-A transition at position 530 of the KCNA1 gene, leading to an ile-to-asn substitution at codon 177 (I177N). The original description of the mutation, ILE176ARG (527T-A), was corrected in an erratum.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018