1:100327088-100327088 A > G

Classification

Category 5 curation
CMH MAF 130 / 14969 samples (0.868%)
127 het., 3 hom. (97.7%)
133 / 29938 total alleles (0.444%)

gene: AGL synonym(s): GDE, AGL, ENSG00000162688

OMIM
OMIM:610860: AGL (Autosomal recessive inheritance)
OMIM:232400: Glycogen storage disease IIIa
OMIM:232400: Glycogen storage disease IIIb

NM_000642.2 [CDS]
hgvs_c: NM_000642.2:c.112A>G
reference AA: T
variant AA: A
reference codon: Act
variant codon: Gct
cDNA pos: 512
CDS pos: 112
translation impact: non_synonymous
protein sequence: NP_000633.2
AA pos: 38
hgvs_p: NP_000633.2:p.Thr38Ala
blosum: 0
SIFT: deleterious (0.04)
PolyPhen2: benign (0.016)

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

TRNAN-GUU [intron]

rs35278779
GMAF = 0.01677
TOPMED_MAF = 0.01467730632008154

256718
clinvar_significance = Benign_Likely_benign
clinvar_disease = Glycogen storage disease type III

EVS
EVS MAF (European American/African American/All) = 0.000233,0.051975,0.017764

ExAC African, (517 / 10340), 5%
gnomAD African, (1262 / 24948), 5.06% curated_classification = 5