Classification
Category 2
premature_stop
CMH MAF
3 /
6955 samples
(0.0431%)
2 het.,
1 hom.
(66.7%)
4 /
13910 total alleles
(0.0288%)
Genes
gene: ARV1
synonym(s): ARV1, ENSG00000173409
NM_022786.1
[CDS]
Reportable
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
Export Variant
Curation
Likely pathogenic