chr19:13231717:G>A Detail (hg38) (CACNA1A)

Information

Genome

Assembly Position
hg19 chr19:13,342,531-13,342,531 View the variant detail on this assembly version.
hg38 chr19:13,231,717-13,231,717

HGVS

Type Transcript Protein
RefSeq NM_001127222.1:c.5393C>T NP_001120694.1:p.Ser1798Leu
NM_000068.3:c.5411C>T NP_000059.3:p.Ser1804Leu
NM_001174080.1:c.5411C>T NP_001167551.1:p.Ser1804Leu
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM1726935 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic Epileptic encephalopathy, early infantile, 42 germline MGS000009
(TMGS000012) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-07-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-07-30 criteria provided, multiple submitters, no conflicts Developmental and epileptic encephalopathy, 42 germline unknown Detail
Pathogenic 2021-08-20 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
Pathogenic 2021-08-20 criteria provided, single submitter Developmental and epileptic encephalopathy, 42,episodic ataxia type 2 germline Detail
Likely pathogenic 2022-03-20 criteria provided, single submitter spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2 de novo Detail
Likely pathogenic 2022-03-20 criteria provided, single submitter spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2 de novo Detail
Likely pathogenic 2022-03-20 criteria provided, single submitter spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2 de novo Detail
Likely pathogenic 2022-03-20 criteria provided, single submitter spinocerebellar ataxia type 6,Migraine, familial hemiplegic, 1,Developmental and epileptic encephalopathy, 52,episodic ataxia type 2 de novo Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND not provided ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND Developmental and epileptic encephalopathy, 42 ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions ClinVar Detail
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) AND multiple conditions ClinVar 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
rs1064794261 dbSNP
Genome
hg38
Position
chr19:13,231,717-13,231,717
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser