1:23383989-23383989 G > T

Classification

Category 2 premature_stop
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: KDM1A synonym(s): AOF2, BHC110, KDM1, LSD1, KDM1A, ENSG00000004487

OMIM
OMIM:609132: KDM1A
OMIM:616728: Cleft palate, psychomotor retardation, and distinctive facial features

NM_001009999.2 [CDS]
hgvs_c: NM_001009999.2:c.1003G>T
reference AA: G
variant AA: *
reference codon: Gga
variant codon: Tga
cDNA pos: 1152
CDS pos: 1003
translation impact: premature_stop
protein sequence: NP_001009999.1
AA pos: 335
hgvs_p: NP_001009999.1:p.Gly335Ter
blosum: -4

559560
clinvar_significance = Likely_pathogenic