Classification
Category 2
acceptor_site
CMH MAF
2 /
11983 samples
(0.0167%)
2 het.,
0 hom.
(100%)
2 /
23966 total alleles
(0.00835%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: KDM1A
synonym(s): AOF2, BHC110, KDM1, LSD1, KDM1A, ENSG00000004487
NM_001009999.2
[intron]
Reportable
hgvs_c: NM_001009999.2:c.1623-2A>G
splice impact: acceptor_site
protein sequence:
NP_001009999.1
NM_015013.3
[intron]
hgvs_c: NM_015013.3:c.1551-2A>G
protein sequence:
NP_055828.2
Export Variant
Curation
Uncertain Significance