chr19:42479781:C>A Detail (hg19) (ATP1A3)

Information

Genome

Assembly Position
hg19 chr19:42,479,781-42,479,781
hg38 chr19:41,975,629-41,975,629 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256214.1:c.2302G>T NP_001243143.1:p.Gly768Cys
NM_001256213.1:c.2296G>T NP_001243142.1:p.Gly766Cys
Ensemble ENST00000602133.5:c.2173G>T ENST00000602133.5:p.Gly725Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 182350 OMIM
HGNC 801 HGNC
Ensembl ENSG00000105409 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-09-06 criteria provided, single submitter dystonia 12 germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Alternating hemiplegia of childhood 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) AND Dystonia 12 ClinVar Detail
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) AND not provided 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
rs557052809 dbSNP
Genome
hg19
Position
chr19:42,479,781-42,479,781
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser