1:2338250-2338250 C > G

Classification

Category 4 curation
CMH MAF 61 / 14969 samples (0.408%)
59 het., 2 hom. (96.7%)
63 / 29938 total alleles (0.21%)

gene: PEX10 synonym(s): NALD, PBD6A, PBD6B, RNF69, PEX10, ENSG00000157911

OMIM
OMIM:602859: PEX10 (Autosomal recessive inheritance)
OMIM:614870: Peroxisome biogenesis disorder 6A (Zellweger)
OMIM:614871: Peroxisome biogenesis disorder 6B

NM_153818.1 [CDS]
hgvs_c: NM_153818.1:c.745G>C
reference AA: V
variant AA: L
reference codon: Gtg
variant codon: Ctg
cDNA pos: 814
CDS pos: 745
translation impact: non_synonymous
protein sequence: NP_722540.1
AA pos: 249
hgvs_p: NP_722540.1:p.Val249Leu
blosum: 1
SIFT: tolerated (0.34)
PolyPhen2: benign (0.001)

rs139345520
GMAF = 0.006589
TOPMED_MAF = 0.00661792813455657

296277
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Peroxisome biogenesis disorder 1A (Zellweger)

EVS
EVS MAF (European American/African American/All) = 0.000116,0.018207,0.006237

ExAC African, (183 / 7528), 2.43%
gnomAD African, (517 / 23864), 2.17% curated_classification = 4