1:27878526-27878526 G > T

Classification

Category 3

non_synonymous

CMH MAF

1 / 9594 samples (0.0104%)
1 het., 0 hom. (100%)
1 / 19188 total alleles (0.00521%)

Genes

Consequences
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