chr19:41970405:C>A Detail (hg38) (ATP1A3)

Information

Genome

Assembly Position
hg19 chr19:42,474,557-42,474,557 View the variant detail on this assembly version.
hg38 chr19:41,970,405-41,970,405

HGVS

Type Transcript Protein
RefSeq NM_001256213.1:c.2434G>T NP_001243142.1:p.Asp812Tyr
NM_001256214.1:c.2440G>T NP_001243143.1:p.Asp814Tyr
Ensemble ENST00000543770.5:c.2434G>T ENST00000543770.5:p.Asp812Tyr
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-12-16 criteria provided, single submitter dystonia 12 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.487 dystonia 12 NA CLINVAR Detail
0.240 Alternating hemiplegia of childhood 2 NA CLINVAR Detail
0.246 alternating hemiplegia of childhood The aim of this study was to determine the functional consequences of six ATP1A3... BeFree 24631656 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) AND Dystonia 12 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D... 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
rs80356537 dbSNP
Genome
hg38
Position
chr19:41,970,405-41,970,405
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser