15:91550240-91550240 C > A

Classification

Category 2

premature_stop

CMH MAF

1 / 14969 samples (0.00668%)
1 het., 0 hom. (100%)
1 / 29938 total alleles (0.00334%)

Genes

Consequences
gene: VPS33B synonym(s): VPS33B, ENSG00000184056

NM_018668.3 [CDS] Reportable
hgvs_c: NM_018668.3:c.640G>T
reference AA: E
variant AA: *
reference codon: Gag
variant codon: Tag
cDNA pos: 994
CDS pos: 640
translation impact: premature_stop
protein sequence: NP_061138.3
AA pos: 214
hgvs_p: NP_061138.3:p.Glu214Ter
blosum: -4

Export Variant

Curation

Likely pathogenic