16:56226504-56226504 A > G

Classification

Category 1

non_synonymous

CMH MAF

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

Genes

Consequences
gene: GNAO1 synonym(s): G-ALPHA-o, GNAO, GNAO1, ENSG00000087258

NM_020988.2 [CDS] Reportable
hgvs_c: NM_020988.2:c.137A>G
reference AA: K
variant AA: R
reference codon: aAa
variant codon: aGa
cDNA pos: 1034
CDS pos: 137
translation impact: non_synonymous
protein sequence: NP_066268.1
AA pos: 46
hgvs_p: NP_066268.1:p.Lys46Arg
blosum: 2
SIFT: deleterious (0.02)
PolyPhen2: probably_damaging (0.926)

NM_138736.2 [CDS]
hgvs_c: NM_138736.2:c.137A>G
reference AA: K
variant AA: R
reference codon: aAa
variant codon: aGa
cDNA pos: 1034
CDS pos: 137
translation impact: non_synonymous
protein sequence: NP_620073.2
AA pos: 46
hgvs_p: NP_620073.2:p.Lys46Arg
blosum: 2
SIFT: deleterious (0.02)
PolyPhen2: probably_damaging (0.924)

Export Variant

Curation

Likely pathogenic