10:81049602-81049602 G > A

Classification

Category 3

non_synonymous

CMH MAF

3 / 13105 samples (0.0229%)
3 het., 0 hom. (100%)
3 / 26210 total alleles (0.0114%)

Genes

Consequences
gene: ZMIZ1 synonym(s): hZIMP10, MIZ, RAI17, TRAFIP10, ZIMP10, ZMIZ1, ENSG00000108175

NM_020338.3 [CDS] Reportable
hgvs_c: NM_020338.3:c.496G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 1068
CDS pos: 496
translation impact: non_synonymous
protein sequence: NP_065071.1
AA pos: 166
hgvs_p: NP_065071.1:p.Val166Met
blosum: 1
PolyPhen2: probably_damaging (0.997)

COSMIC

COSMIC Mutation ID = COSV57890520
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false

Export Variant

Curation

Uncertain Significance