Classification

Category 2

acceptor_site

CMH MAF

2 / 9594 samples (0.0208%)
2 het., 0 hom. (100%)
2 / 19188 total alleles (0.0104%)

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