chr19:13482497:C>T Detail (hg19) (CACNA1A)

Information

Genome

Assembly Position
hg19 chr19:13,482,497-13,482,497
hg38 chr19:13,371,683-13,371,683 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.631+5G>A
NM_000068.3:c.631+5G>A
NM_001174080.1:c.631+5G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv61293734 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-11-25 no assertion criteria provided episodic ataxia type 2 maternal unknown Detail
Conflicting interpretations of pathogenicity 2023-07-12 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2022-11-08 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
Uncertain significance 2022-11-08 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
Likely pathogenic 2021-03-31 criteria provided, single submitter CACNA1A-related disorder unknown 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.631+5G>A AND Episodic ataxia type 2 ClinVar Detail
NM_001127222.2(CACNA1A):c.631+5G>A AND not provided ClinVar Detail
NM_001127222.2(CACNA1A):c.631+5G>A AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.631+5G>A AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.631+5G>A AND CACNA1A-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs786200963 dbSNP
Genome
hg19
Position
chr19:13,482,497-13,482,497
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs786200963
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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