1:100343254-100343254 G > A

Classification

Category 4 curation
CMH MAF 181 / 14969 samples (1.21%)
181 het., 0 hom. (100%)
181 / 29938 total alleles (0.605%)

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.1481G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 1881
CDS pos: 1481
translation impact: non_synonymous
protein sequence: NP_000633.2
AA pos: 494
hgvs_p: NP_000633.2:p.Arg494His
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.996)

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

TRNAN-GUU [intron]

rs141043166
GMAF = 0.002995
TOPMED_MAF = 0.00512073139653414

EVS
EVS MAF (European American/African American/All) = 0.008372,0.001816,0.006151

ExAC Finnish, (228 / 6614), 3.45%
COSMIC Mutation ID = COSV54055353
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Finnish, (780 / 25116), 3.11% curated_classification = 4