1:160099144-160099144 A > G

Classification

Category 4 curation
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

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

OMIM
OMIM:182340: ATP1A2 (Autosomal dominant inheritance)
OMIM:104290: Alternating hemiplegia of childhood 1
OMIM:602481: Migraine, familial basilar
OMIM:602481: Migraine, familial hemiplegic, 2

NM_000702.3 [CDS]
hgvs_c: NM_000702.3:c.1415A>G
reference AA: N
variant AA: S
reference codon: aAc
variant codon: aGc
cDNA pos: 1547
CDS pos: 1415
translation impact: non_synonymous
protein sequence: NP_000693.1
AA pos: 472
hgvs_p: NP_000693.1:p.Asn472Ser
blosum: 1
SIFT: tolerated (0.24)
PolyPhen2: benign (0.013)

rs529607288
GMAF = 0.0009984
TOPMED_MAF = 0.00009556574923547

204887
clinvar_significance = Uncertain_significance

ExAC East Asian, (20 / 8646), 0.231%
gnomAD Other East Asian, (44 / 14424), 0.305% curated_classification = 4