chr19:13346076:C>T Detail (hg19) (CACNA1A)

Information

Genome

Assembly Position
hg19 chr19:13,346,076-13,346,076
hg38 chr19:13,235,262-13,235,262 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.5080G>A NP_001120694.1:p.Val1694Ile
NM_000068.3:c.5098G>A NP_000059.3:p.Val1700Ile
NM_001174080.1:c.5098G>A NP_001167551.1:p.Val1700Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided Migraine, familial hemiplegic, 1 not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.332 Hemiplegic migraine, familial type 1 The clinical spectrum of familial hemiplegic migraine associated with mutations ... UNIPROT 11439943 Detail
0.013 cerebellar ataxia Here, we explored the effects of G protein-dependent modulation on mutations W16... BeFree 22549042 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile) AND Migraine, familial hemiplegic, 1 ClinVar Detail
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calciu... DisGeNET Detail
Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which... 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
rs121908224 dbSNP
Genome
hg19
Position
chr19:13,346,076-13,346,076
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser