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%)

Genes

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

NM_006618.3 [CDS] Reportable
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)

dbSNP

rs1389512177
TOPMED_MAF = 0.00000796381243628

gnomAD

gnomAD
Source: Genome

Ethnicity Count / Number MAF
African 0 / 8718 0%
America/Latino 0 / 848 0%
Ashkenazi Jewish 0 / 290 0%
East Asian 0 / 1560 0%
Finnish 0 / 3476 0%
Non-Finnish 1 / 15432 0.00648%
Other 0 / 1088 0%
Estonian 0 / 4590 0%
North-Western European 1 / 8598 0.0116%
Southern European 0 / 106 0%
Other non-Finnish European 0 / 2138 0%
Total MAF 1 / 31412 0.00318%


Export Variant

Curation

Uncertain Significance