Classification
Category 3
non_synonymous
CMH MAF
1 /
13144 samples
(0.00761%)
1 het.,
0 hom.
(100%)
1 /
26288 total alleles
(0.0038%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: AHDC1
synonym(s): CL23945, DJ159A19.3, RP1-159A19.1, AHDC1, ENSG00000126705
NM_001029882.2
[CDS]
Reportable
hgvs_c: NM_001029882.2:c.101C>A
reference AA: T
variant AA: N
reference codon: aCc
variant codon: aAc
cDNA pos: 1070
CDS pos: 101
translation impact: non_synonymous
protein sequence:
NP_001025053.1
AA pos: 34
hgvs_p: NP_001025053.1:p.Thr34Asn
blosum: 0
SIFT: tolerated_low_confidence (0.12)
PolyPhen2: possibly_damaging (0.607)
dbSNP
rs1179505060
Export Variant
Curation
Uncertain Significance