1:116206400-116206400 A > G

Classification

Category 4 curation
CMH MAF 36 / 13144 samples (0.274%)
36 het., 0 hom. (100%)
36 / 26288 total alleles (0.137%)

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

TRNAN-GUU [intron]

gene: VANGL1 synonym(s): KITENIN, LPP2, STB2, STBM2, VANGL1, ENSG00000173218

OMIM
OMIM:610132: VANGL1 (Autosomal dominant inheritance)
OMIM:600145: Caudal regression syndrome
OMIM:182940: {Neural tube defects, susceptibility to}

NM_138959.2 [CDS]
hgvs_c: NM_138959.2:c.323A>G
reference AA: K
variant AA: R
reference codon: aAa
variant codon: aGa
cDNA pos: 594
CDS pos: 323
translation impact: non_synonymous
protein sequence: NP_620409.1
AA pos: 108
hgvs_p: NP_620409.1:p.Lys108Arg
blosum: 2
SIFT: tolerated (0.88)
PolyPhen2: benign (0.003)

rs141673853
GMAF = 0.002995
TOPMED_MAF = 0.00130606523955147

446031
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.001279,0.000681,0.001076

ExAC America/Latino, (15 / 11578), 0.13%
gnomAD Bulgarian, (5 / 2670), 0.187% curated_classification = 4