Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT

Synonyms

EPISODIC ATAXIA, TYPE 2, AND EPILEPSY

ID

http://purl.bioontology.org/ontology/OMIM/601011

altLabel

EPISODIC ATAXIA, TYPE 2, AND EPILEPSY

CACNA1A

ALPHA-1ACT

MIGRAINE, FAMILIAL HEMIPLEGIC, 1

MIGRAINE, SPORADIC HEMIPLEGIC

SPINOCEREBELLAR ATAXIA 6

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42

MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA

ALPHA-1A C-TERMINAL POLYPEPTIDE

CACNA1A C-TERMINAL POLYPEPTIDE

CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4

CaV2.1

MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA

CACNL1A4

EPISODIC ATAXIA, TYPE 2

cui

C1720416

C4016713

C1832903

C1832884

C4310716

C1832885

C0752124

C1456413

Gene Locus

19p13

Gene Symbol

SCA6

DEE42

CACNL1A4

CACNA1A

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601011.0020

http://purl.bioontology.org/ontology/OMIM/601011.0029

http://purl.bioontology.org/ontology/OMIM/601011.0027

http://purl.bioontology.org/ontology/OMIM/601011.0024

http://purl.bioontology.org/ontology/OMIM/601011.0023

http://purl.bioontology.org/ontology/OMIM/601011.0028

http://purl.bioontology.org/ontology/OMIM/601011.0026

http://purl.bioontology.org/ontology/OMIM/601011.0021

http://purl.bioontology.org/ontology/OMIM/601011.0022

http://purl.bioontology.org/ontology/OMIM/601011.0025

http://purl.bioontology.org/ontology/OMIM/601011.0017

http://purl.bioontology.org/ontology/OMIM/601011.0014

http://purl.bioontology.org/ontology/OMIM/601011.0013

http://purl.bioontology.org/ontology/OMIM/601011.0015

http://purl.bioontology.org/ontology/OMIM/601011.0012

http://purl.bioontology.org/ontology/OMIM/601011.0010

http://purl.bioontology.org/ontology/OMIM/601011.0019

http://purl.bioontology.org/ontology/OMIM/601011.0018

http://purl.bioontology.org/ontology/OMIM/601011.0011

http://purl.bioontology.org/ontology/OMIM/601011.0016

http://purl.bioontology.org/ontology/OMIM/601011.0032

http://purl.bioontology.org/ontology/OMIM/601011.0033

http://purl.bioontology.org/ontology/OMIM/601011.0031

http://purl.bioontology.org/ontology/OMIM/601011.0030

http://purl.bioontology.org/ontology/OMIM/601011.0035

http://purl.bioontology.org/ontology/OMIM/601011.0036

http://purl.bioontology.org/ontology/OMIM/601011.0034

http://purl.bioontology.org/ontology/OMIM/601011.0037

http://purl.bioontology.org/ontology/OMIM/601011.0006

http://purl.bioontology.org/ontology/OMIM/601011.0003

http://purl.bioontology.org/ontology/OMIM/601011.0009

http://purl.bioontology.org/ontology/OMIM/601011.0004

http://purl.bioontology.org/ontology/OMIM/601011.0008

http://purl.bioontology.org/ontology/OMIM/601011.0001

http://purl.bioontology.org/ontology/OMIM/601011.0005

http://purl.bioontology.org/ontology/OMIM/601011.0002

http://purl.bioontology.org/ontology/OMIM/601011.0007

MIMTYPEMEANING

Gene with known sequence

notation

601011

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT

tui

T047

T033

T028

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