1:202722108-202722109 AA > -

Classification

Category 2

frameshift

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.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 = Likely_pathogenic

Export Variant

Curation

Likely pathogenic