chr19:42489242:A>T Detail (hg19) (ATP1A3)

Information

Genome

Assembly Position
hg19 chr19:42,489,242-42,489,242
hg38 chr19:41,985,090-41,985,090 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256213.1:c.854T>A NP_001243142.1:p.Ile285Asn
NM_001256214.1:c.860T>A NP_001243143.1:p.Ile287Asn
Ensemble ENST00000543770.5:c.854T>A ENST00000543770.5:p.Ile285Asn
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 2012-09-01 no assertion criteria provided Alternating hemiplegia of childhood 2 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
Annotation

Annotations

DescrptionSourceLinks
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) AND Alternating hemiplegia of childhood 2 ClinVar Detail
NA DisGeNET 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
rs80356532 dbSNP
Genome
hg19
Position
chr19:42,489,242-42,489,242
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser