1:231114941-231114941 C > A

Classification

Category 2 premature_stop
CMH MAF 3 / 13144 samples (0.0228%)
2 het., 1 hom. (66.7%)
4 / 26288 total alleles (0.0152%)

gene: ARV1 synonym(s): ARV1, ENSG00000173409

OMIM
OMIM:611647: ARV1
OMIM:617020: Epileptic encephalopathy, early infantile, 38

NM_022786.1 [CDS]
hgvs_c: NM_022786.1:c.90C>A
reference AA: C
variant AA: *
reference codon: tgC
variant codon: tgA
cDNA pos: 119
CDS pos: 90
translation impact: premature_stop
protein sequence: NP_073623.1
AA pos: 30
hgvs_p: NP_073623.1:p.Cys30Ter
blosum: -4