1:155450311-155450311 T > C

Classification

Category 3

non_synonymous

CMH MAF

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

Genes

Consequences
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