1:27876868-27876868 G > A

Classification

Category 1
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.1759C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 2728
CDS pos: 1759
translation impact: premature_stop
protein sequence: NP_001025053.1
AA pos: 587
hgvs_p: NP_001025053.1:p.Arg587Ter
blosum: -4

rs886041620

280407
clinvar_significance = Pathogenic

COSMIC Mutation ID = COSV55942007
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false