NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn) AND Episodic ataxia type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1998
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000014432.28

Allele description [Variation Report for NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn)]

NM_000217.3(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_000217.3(KCNA1):c.530T>A (p.Ile177Asn)

HGVS:

NC_000012.12:g.4911908T>A
NG_011815.1:g.7002T>A
NM_000217.3:c.530T>AMANE SELECT
NP_000208.2:p.Ile177Asn
LRG_1297t1:c.530T>A
LRG_1297:g.7002T>A
LRG_1297p1: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_000217.3: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; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008047; MedGen: C1719788; Orphanet: 972; OMIM: 160120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034681	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034681

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1998)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Three novel KCNA1 mutations in episodic ataxia type I families.

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH.

Hum Genet. 1998 Apr;102(4):464-6. Erratum in: Hum Genet 1998 Jun;102(6):713.

PubMed [citation]

PMID:: 9600245

Details of each submission

From OMIM, SCV000034681.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a family with episodic ataxia (EA1; 160120), Scheffer et al. (1998) identified heterozygosity for a T-to-A transversion 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 29, 2024

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