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