1:27876486-27876486 C > -

Classification

Category 2 frameshift
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: AHDC1 synonym(s): CL23945, DJ159A19.3, RP1-159A19.1, AHDC1, ENSG00000126705

OMIM
OMIM:615790: AHDC1
OMIM:615829: Xia-Gibbs syndrome

NM_001029882.2 [CDS]
hgvs_c: NM_001029882.2:c.2141del
reference AA: G
variant AA: X
reference codon: gGc
variant codon: gc
cDNA pos: 3110
CDS pos: 2141
translation impact: frameshift
protein sequence: NP_001025053.1
AA pos: 714
hgvs_p: NP_001025053.1:p.Gly714AlafsTer18
blosum: -1