Classification
Category 2
frameshift
CMH MAF
1 /
6955 samples
(0.0144%)
1 het.,
0 hom.
(100%)
1 /
13910 total alleles
(0.00719%)
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.1625_1626del
reference AA: F
variant AA: X
reference codon: tTT
variant codon: t
cDNA pos: 1741
CDS pos: 1625
translation impact: frameshift
protein sequence:
NP_006609.3
AA pos: 542
hgvs_p: NP_006609.3:p.Phe542CysfsTer23
blosum: -1
ClinVar
445404
clinvar_significance = Uncertain_significance
Export Variant
Curation
Likely pathogenic