X:148564453-148564453 G > A

Classification

Category 3 non_synonymous
CMH MAF 2 / 14969 samples (0.0134%)
1 het., 1 hom. (50%)
3 / 29938 total alleles (0.01%)

gene: IDS synonym(s): MPS2, SIDS, IDS, ENSG00000010404

OMIM
OMIM:300823: IDS (X-linked recessive inheritance)
OMIM:309900: Mucopolysaccharidosis II

NM_000202.5 [CDS]
hgvs_c: NM_000202.5:c.1477C>T
reference AA: R
variant AA: C
reference codon: Cgc
variant codon: Tgc
cDNA pos: 1694
CDS pos: 1477
translation impact: non_synonymous
protein sequence: NP_000193.1
AA pos: 493
hgvs_p: NP_000193.1:p.Arg493Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

rs782190885

gnomAD Ashkenazi Jewish, (1 / 7489), 0.0134%