17:7749942-7749942 C > T

Classification

Category 2

premature_stop

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
gene: KDM6B synonym(s): JMJD3, KDM6B, ENSG00000132510

NM_001080424.1 [CDS] Reportable
hgvs_c: NM_001080424.1:c.595C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 971
CDS pos: 595
translation impact: premature_stop
protein sequence: NP_001073893.1
AA pos: 199
hgvs_p: NP_001073893.1:p.Arg199Ter
blosum: -4

Export Variant

Curation

Likely pathogenic