chr19:41967744:C>T Detail (hg38) (ATP1A3)

Information

Genome

Assembly Position
hg19 chr19:42,471,896-42,471,896 View the variant detail on this assembly version.
hg38 chr19:41,967,744-41,967,744

HGVS

Type Transcript Protein
RefSeq NM_001256213.1:c.2872G>A NP_001243142.1:p.Gly958Arg
NM_001256214.1:c.2878G>A NP_001243143.1:p.Gly960Arg
Ensemble ENST00000543770.5:c.2872G>A ENST00000543770.5:p.Gly958Arg
Summary

MGeND

Clinical significance Pathogenic
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-01-03 criteria provided, multiple submitters, no conflicts Alternating hemiplegia of childhood 2 de novo germline Detail
Pathogenic 2016-06-14 no assertion criteria provided epilepsy unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-10-05 criteria provided, multiple submitters, no conflicts dystonia 12 germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Alternating hemiplegia of childhood 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Alternating hemiplegia of childhood 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Alternating hemiplegia of childhood 2 unknown Detail
Pathogenic 2023-11-10 criteria provided, single submitter ATP1A3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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.2839G>A (p.Gly947Arg) AND Alternating hemiplegia of childhood 2 ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND not provided ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND Dystonia 12 ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) AND ATP1A3-related disorder ClinVar 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
rs398122887 dbSNP
Genome
hg38
Position
chr19:41,967,744-41,967,744
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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