chr19:42474692:G>A Detail (hg19) (ATP1A3)

Information

Genome

Assembly Position
hg19 chr19:42,474,692-42,474,692
hg38 chr19:41,970,540-41,970,540 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256214.1:c.2305C>T NP_001243143.1:p.Arg769Cys
NM_001256213.1:c.2299C>T NP_001243142.1:p.Arg767Cys
Ensemble ENST00000545399.6:c.2305C>T ENST00000545399.6:p.Arg769Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 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 fever-induced paroxysmal weakness and encephalopathy germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-05-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2021-07-15 criteria provided, multiple submitters, no conflicts Alternating hemiplegia of childhood 2 germline Detail
Pathogenic 2016-02-16 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-09-24 criteria provided, multiple submitters, no conflicts dystonia 12 germline unknown Detail
Likely pathogenic 2018-10-12 criteria provided, single submitter Alternating hemiplegia of childhood 2,dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome germline Detail
Likely pathogenic 2018-10-12 criteria provided, single submitter Alternating hemiplegia of childhood 2,dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome germline Detail
Likely pathogenic 2018-10-12 criteria provided, single submitter Alternating hemiplegia of childhood 2,dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome germline Detail
Pathogenic criteria provided, single submitter Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND not provided ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND Alternating hemiplegia of childhood 2 ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND Inborn genetic diseases ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND Dystonia 12 ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND multiple conditions ClinVar Detail
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-... 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
rs1064797245 dbSNP
Genome
hg19
Position
chr19:42,474,692-42,474,692
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser