chr19:13261495:A>C Detail (hg38) (CACNA1A, LOC126862864)

Information

Genome

Assembly Position
hg19 chr19:13,372,309-13,372,309 View the variant detail on this assembly version.
hg38 chr19:13,261,495-13,261,495

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.4205T>G NP_001120694.1:p.Phe1402Cys
NM_000068.3:c.4217T>G NP_000059.3:p.Phe1406Cys
NM_001174080.1:c.4217T>G NP_001167551.1:p.Phe1406Cys
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 2001-11-27 no assertion criteria provided episodic ataxia type 2 germline not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.575 Episodic ataxia type 2 (disorder) NA CLINVAR Detail
0.575 Episodic ataxia type 2 (disorder) EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels ... UNIPROT 11723274 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) AND Episodic ataxia type 2 ClinVar Detail
NA DisGeNET Detail
EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whol... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121908227 dbSNP
Genome
hg38
Position
chr19:13,261,495-13,261,495
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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