1:200635484-200635484 A > C

Classification

Category 3 non_synonymous
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: DDX59 synonym(s): RP11-92G12.2, ZNHIT5, DDX59, ENSG00000118197

OMIM
OMIM:615464: DDX59 (Autosomal recessive inheritance)
OMIM:174300: Orofaciodigital syndrome V

NM_001031725.4 [CDS]
hgvs_c: NM_001031725.4:c.385T>G
reference AA: L
variant AA: V
reference codon: Ttg
variant codon: Gtg
cDNA pos: 628
CDS pos: 385
translation impact: non_synonymous
protein sequence: NP_001026895.2
AA pos: 129
hgvs_p: NP_001026895.2:p.Leu129Val
blosum: 1
SIFT: tolerated (0.06)
PolyPhen2: probably_damaging (1.0)