1:8029446-8029446 C > T

Classification

Category 5
CMH MAF 245 / 13144 samples (1.86%)
237 het., 8 hom. (96.7%)
253 / 26288 total alleles (0.962%)

gene: PARK7 synonym(s): DJ-1, DJ1, PARK7, ENSG00000116288

OMIM
OMIM:602533: PARK7 (Autosomal recessive inheritance)
OMIM:606324: Parkinson disease 7, autosomal recessive early-onset

NM_007262.4 [CDS]
hgvs_c: NM_007262.4:c.234C>T
reference AA: G
variant AA: G
reference codon: ggC
variant codon: ggT
cDNA pos: 397
CDS pos: 234
translation impact: synonymous
protein sequence: NP_009193.2
AA pos: 78
hgvs_p: NP_009193.2:p.Gly78=
blosum: 6

rs11548937
GMAF = 0.03215
TOPMED_MAF = 0.03636276758409785

298121
clinvar_significance = Benign_Likely_benign
clinvar_disease = Parkinson disease 7
clinvar_disease = Parkinson Disease

EVS
EVS MAF (European American/African American/All) = 0.001279,0.104176,0.036137

ExAC African, (1170 / 10286), 11.4%
gnomAD African, (2765 / 24852), 11.1%