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: ASH1L
synonym(s): ASH1, ASH1L1, KMT2H, ASH1L, ENSG00000116539
NM_018489.2
[CDS]
Reportable
hgvs_c: NM_018489.2:c.2350A>G
reference AA: K
variant AA: E
reference codon: Aaa
variant codon: Gaa
cDNA pos: 2830
CDS pos: 2350
translation impact: non_synonymous
protein sequence:
NP_060959.2
AA pos: 784
hgvs_p: NP_060959.2:p.Lys784Glu
blosum: 1
SIFT: tolerated_low_confidence (0.38)
PolyPhen2: benign (0.006)
dbSNP
rs909776559
TOPMED_MAF = 0.00000796381243628
Export Variant
Curation
Uncertain Significance