NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) AND Migraine, familial hemiplegic, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 1, 1996
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:: RCV000009008.6

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)]

NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)

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.575G>A (p.Arg192Gln)

HGVS:

NC_000019.10:g.13371744C>T
NG_011569.1:g.139717G>A
NM_000068.4:c.575G>A
NM_001127221.2:c.575G>A
NM_001127222.2:c.575G>AMANE SELECT
NM_001174080.2:c.575G>A
NM_023035.3:c.575G>A
NP_000059.3:p.Arg192Gln
NP_001120693.1:p.Arg192Gln
NP_001120693.1:p.Arg192Gln
NP_001120694.1:p.Arg192Gln
NP_001167551.1:p.Arg192Gln
NP_075461.2:p.Arg192Gln
LRG_7t1:c.575G>A
LRG_7:g.139717G>A
LRG_7p1:p.Arg192Gln
NC_000019.9:g.13482558C>T
NM_001127221.1:c.575G>A

Protein change:

R192Q; ARG192GLN

Links:

UniProtKB/Swiss-Prot: VAR_001491; OMIM: 601011.0001; dbSNP: rs121908211

NCBI 1000 Genomes Browser:

rs121908211

Molecular consequence:

NM_000068.4:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127221.2:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127222.2:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174080.2:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_023035.3:c.575G>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

Recent activity

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APTX aprataxin [Homo sapiens]
APTX aprataxin [Homo sapiens]
Gene ID:54840

Gene
Gene Links for GEO Profiles (Select 129783157) (1)
Gene
Homo sapiens TCL1 upstream neural differentiation-associated RNA (TUNAR), transc...
Homo sapiens TCL1 upstream neural differentiation-associated RNA (TUNAR), transcript variant 1, long non-coding RNA
gi|917960249|ref|NR_132398.1|

Nucleotide
Homo sapiens beta-1,4-galactosyltransferase 1 (B4GALT1), transcript variant 1, m...
Homo sapiens beta-1,4-galactosyltransferase 1 (B4GALT1), transcript variant 1, mRNA
gi|1811109620|ref|NM_001497.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029222	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000090869	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029222

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1996)

germline

literature only

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

SCV000090869

UniProtKB/Swiss-Prot

no classification provided

not provided

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
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR.

Cell. 1996 Nov 1;87(3):543-52.

PubMed [citation]

PMID:: 8898206

cannot get document summary

Details of each submission

From OMIM, SCV000029222.4

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

Description

In 5 unrelated families with familial hemiplegic migraine (FHM1; 141500), Ophoff et al. (1996) identified 4 different missense mutations in the CACNL1A4 gene. One of these mutations was a G-to-A transition at nucleotide 850 in exon 4 resulting in an arg192-to-gln (R192Q) amino acid substitution.

#	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

From UniProtKB/Swiss-Prot, SCV000090869.1

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

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

Last Updated: Sep 29, 2024

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