Classification

non_synonymous

CMH MAF

4 / 13144 samples (0.0304%)
4 het., 0 hom. (100%)
4 / 26288 total alleles (0.0152%)

Genes

Consequences

gene: ATP1A2 synonym(s): FHM2, MHP2, ATP1A2, ENSG00000018625

NM_000702.3 [CDS] Reportable
hgvs_c: NM_000702.3:c.1410C>G
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaG
cDNA pos: 1542
CDS pos: 1410
translation impact: non_synonymous
protein sequence: NP_000693.1
AA pos: 470
hgvs_p: NP_000693.1:p.Asp470Glu
blosum: 2
SIFT: tolerated (1.0)
PolyPhen2: benign (0.0)

dbSNP

rs533400580
TOPMED_MAF = 0.00000796381243628

ClinVar

289747
clinvar_significance = Uncertain_significance

Export Variant

Curation