1:202718183-202718183 T > C

Classification

Category 3 non_synonymous
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: KDM5B synonym(s): CT31, JARID1B, PLU-1, PLU1, PUT1, RBBP2H1A, KDM5B, ENSG00000117139

OMIM
OMIM:605393: KDM5B
OMIM:618109: Mental retardation, autosomal recessive 65

NM_006618.3 [CDS]
hgvs_c: NM_006618.3:c.1906A>G
reference AA: M
variant AA: V
reference codon: Atg
variant codon: Gtg
cDNA pos: 2022
CDS pos: 1906
translation impact: non_synonymous
protein sequence: NP_006609.3
AA pos: 636
hgvs_p: NP_006609.3:p.Met636Val
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: benign (0.094)

rs1389512177
TOPMED_MAF = 0.00000796381243628

gnomAD North-Western European, (1 / 8598), 0.0116%