chr19:13363829:C> Detail (hg19) (CACNA1A)

Information

Genome

Assembly Position
hg19 chr19:13,363,829-13,363,829
hg38 chr19:13,253,015-13,253,015 

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.4842delG NP_001120694.1:p.Val1616SerfsTer7
NM_000068.3:c.4854delG NP_000059.3:p.Val1620SerfsTer7
NM_001174080.1:c.4854delG NP_001167551.1:p.Val1620SerfsTer7
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 2001-04-01 no assertion criteria provided episodic ataxia type 2 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.4842del (p.Val1616fs) AND Episodic ataxia type 2 ClinVar Detail
NA 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
rs587776695 dbSNP
Genome
hg19
Position
chr19:13,363,829-13,363,829
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser