chr19:13275849:C>T Detail (hg38) (CACNA1A, LOC126862865)

Information

Genome

Assembly Position
hg19 chr19:13,386,663-13,386,663 View the variant detail on this assembly version.
hg38 chr19:13,275,849-13,275,849

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.3989+1G>A
NM_000068.3:c.4001+1G>A
NM_001174080.1:c.4001+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601011 OMIM
HGNC 1388 HGNC
Ensembl ENSG00000141837 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-01 criteria provided, single submitter episodic ataxia type 2 germline unknown Detail
Pathogenic 2021-08-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.575 Episodic ataxia type 2 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127222.2(CACNA1A):c.3989+1G>A AND Episodic ataxia type 2 ClinVar Detail
NM_001127222.2(CACNA1A):c.3989+1G>A AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776693 dbSNP
Genome
hg38
Position
chr19:13,275,849-13,275,849
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser