1:228363053-228363053 G > C

Classification

Category 3

non_synonymous

CMH MAF

2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

Genes

Consequences
gene: IBA57 synonym(s): C1orf69, IBA57, ENSG00000181873

NM_001010867.2 [CDS] Reportable
hgvs_c: NM_001010867.2:c.910G>C
reference AA: G
variant AA: R
reference codon: Gga
variant codon: Cga
cDNA pos: 999
CDS pos: 910
translation impact: non_synonymous
protein sequence: NP_001010867.1
AA pos: 304
hgvs_p: NP_001010867.1:p.Gly304Arg
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.993)

Export Variant

Curation

Uncertain Significance