1:40737667-40737667 G > C

Classification

Category 3

non_synonymous

CMH MAF

1 / 11422 samples (0.00876%)
1 het., 0 hom. (100%)
1 / 22844 total alleles (0.00438%)

Genes

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

TRNAN-GUU [intron] Reportable

gene: ZMPSTE24 synonym(s): FACE-1, FACE1, HGPS, PRO1, STE24, Ste24p, ZMPSTE24, ENSG00000084073

NM_005857.4 [CDS] Reportable
hgvs_c: NM_005857.4:c.729G>C
reference AA: K
variant AA: N
reference codon: aaG
variant codon: aaC
cDNA pos: 951
CDS pos: 729
translation impact: non_synonymous
protein sequence: NP_005848.2
AA pos: 243
hgvs_p: NP_005848.2:p.Lys243Asn
blosum: 0
SIFT: tolerated (0.27)
PolyPhen2: benign (0.068)

Export Variant

Curation

Uncertain Significance