1:27120874-27120874 A > G

Classification

Category 3 non_synonymous
CMH MAF 36 / 13144 samples (0.274%)
36 het., 0 hom. (100%)
36 / 26288 total alleles (0.137%)

gene: PIGV synonym(s): GPI-MT-II, HPMRS1, PIG-V, PIGV, ENSG00000060642

OMIM
OMIM:610274: PIGV (Autosomal recessive inheritance)
OMIM:239300: Hyperphosphatasia with mental retardation syndrome 1

NM_017837.3 [CDS]
hgvs_c: NM_017837.3:c.349A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 712
CDS pos: 349
translation impact: non_synonymous
protein sequence: NP_060307.2
AA pos: 117
hgvs_p: NP_060307.2:p.Ile117Val
blosum: 3
SIFT: tolerated (0.2)
PolyPhen2: benign (0.026)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

rs142192097
GMAF = 0.0007987
TOPMED_MAF = 0.00118660805300713

297116
clinvar_significance = Uncertain_significance
clinvar_disease = Hyperphosphatasia-intellectual disability syndrome

ExAC Non-Finnish, (169 / 66732), 0.253%
gnomAD Swedish, (95 / 26130), 0.364%