16:56388883-56388883 A > G

Classification

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

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

OMIM
OMIM:139311: GNAO1 (Autosomal dominant inheritance)
OMIM:615473: Epileptic encephalopathy, early infantile, 17
OMIM:617493: Neurodevelopmental disorder with involuntary movements

NM_020988.2 [CDS]
hgvs_c: NM_020988.2:c.983A>G
reference AA: D
variant AA: G
reference codon: gAc
variant codon: gGc
cDNA pos: 1880
CDS pos: 983
translation impact: non_synonymous
protein sequence: NP_066268.1
AA pos: 328
hgvs_p: NP_066268.1:p.Asp328Gly
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

rs878853051

235488
clinvar_significance = Likely_pathogenic
curated_classification = 1