1:38006200-38006200 C > A

Classification

Category 3 non_synonymous
CMH MAF 6 / 13144 samples (0.0456%)
6 het., 0 hom. (100%)
6 / 26288 total alleles (0.0228%)

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

TRNAN-GUU [intron]

gene: SNIP1 synonym(s): PMRED, SNIP1, ENSG00000163877

OMIM
OMIM:608241: SNIP1 (Autosomal recessive inheritance)
OMIM:614501: Psychomotor retardation, epilepsy, and craniofacial dysmorphism

NM_024700.3 [CDS]
hgvs_c: NM_024700.3:c.484G>T
reference AA: G
variant AA: C
reference codon: Ggt
variant codon: Tgt
cDNA pos: 599
CDS pos: 484
translation impact: non_synonymous
protein sequence: NP_078976.2
AA pos: 162
hgvs_p: NP_078976.2:p.Gly162Cys
blosum: -3
SIFT: deleterious (0.03)
PolyPhen2: benign (0.237)

rs538745308
GMAF = 0.0001997
TOPMED_MAF = 0.00001592762487257

ExAC Non-Finnish, (1 / 66740), 0.0015%
gnomAD Southern European, (1 / 11502), 0.00869%