10:28878720-28878720 A > G

Classification

Category 3

non_synonymous

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
gene: WAC synonym(s): BM-016, PRO1741, Wwp4, WAC, ENSG00000095787

NM_016628.4 [CDS] Reportable
hgvs_c: NM_016628.4:c.437A>G
reference AA: Y
variant AA: C
reference codon: tAc
variant codon: tGc
cDNA pos: 525
CDS pos: 437
translation impact: non_synonymous
protein sequence: NP_057712.2
AA pos: 146
hgvs_p: NP_057712.2:p.Tyr146Cys
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

NM_100486.3 [CDS]
hgvs_c: NM_100486.3:c.437A>G
reference AA: Y
variant AA: C
reference codon: tAc
variant codon: tGc
cDNA pos: 525
CDS pos: 437
translation impact: non_synonymous
protein sequence: NP_567823.1
AA pos: 146
hgvs_p: NP_567823.1:p.Tyr146Cys
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.939)

NR_024557.2 [exon]
hgvs_c: NR_024557.2:n.911A>G
cDNA pos: 911

ClinVar

445335
clinvar_significance = Uncertain_significance

Export Variant

Curation

Uncertain Significance