9:79975555-79975555 G > T

Classification

Category 2 premature_stop
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: VPS13A synonym(s): CHAC, CHOREIN, VPS13A, ENSG00000197969

OMIM
OMIM:605978: VPS13A (Autosomal recessive inheritance)
OMIM:200150: Choreoacanthocytosis

NM_033305.2 [CDS]
hgvs_c: NM_033305.2:c.8209G>T
reference AA: E
variant AA: *
reference codon: Gag
variant codon: Tag
cDNA pos: 8469
CDS pos: 8209
translation impact: premature_stop
protein sequence: NP_150648.2
AA pos: 2737
hgvs_p: NP_150648.2:p.Glu2737Ter
blosum: -4

rs1057520049

376770
clinvar_significance = Likely_pathogenic