X:73744462-73744462 C > G

Classification

Category 3 non_synonymous
CMH MAF 1 / 14969 samples (0.00668%)
0 het., 1 hom. (0%)
2 / 29938 total alleles (0.00668%)

gene: SLC16A2 synonym(s): AHDS, DXS128, DXS128E, MCT, SLC16A2, ENSG00000147100

OMIM
OMIM:300095: SLC16A2 (X-linked dominant inheritance)
OMIM:300523: Allan-Herndon-Dudley syndrome

NM_006517.4 [CDS]
hgvs_c: NM_006517.4:c.844C>G
reference AA: P
variant AA: A
reference codon: Ccc
variant codon: Gcc
cDNA pos: 989
CDS pos: 844
translation impact: non_synonymous
protein sequence: NP_006508.2
AA pos: 282
hgvs_p: NP_006508.2:p.Pro282Ala
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)