chr12:2207029:T>A Detail (hg38) (CACNA1C)

Information

Genome

Assembly Position
hg19 chr12:2,316,195-2,316,195 View the variant detail on this assembly version.
hg38 chr12:2,207,029-2,207,029

HGVS

Type Transcript Protein
RefSeq NM_001129830.2:c.477+86599T>A
NM_001129829.1:c.477+86599T>A
NM_001129827.1:c.477+86599T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.325
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 114205 OMIM
HGNC 1390 HGNC
Ensembl ENSG00000151067 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44701275 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Mental Depression Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.001 depressive disorder Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.003 depressive disorder Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
0.006 Mental Depression Caucasian non-Hispanic participants in the STAR*D study of treatment for depress... BeFree 19388002 Detail
Annotation

Annotations

DescrptionSourceLinks
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail
Caucasian non-Hispanic participants in the STAR*D study of treatment for depression for whom DNA was... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10848635 dbSNP
Genome
hg38
Position
chr12:2,207,029-2,207,029
Variant Type
snv
Reference Allele
T
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs10848635
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3252
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5450
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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