Classification
Category 4
Common ExAC MAF
original cat: TYPE_3 - non_synonymous
CMH MAF
50 /
11422 samples
(0.438%)
48 het.,
2 hom.
(96%)
52 /
22844 total alleles
(0.228%)
Genes
gene: PEX10
synonym(s): NALD, PBD6A, PBD6B, RNF69, PEX10, ENSG00000157911
NM_002617.3
[CDS]
hgvs_c: NM_002617.3:c.685G>C
reference AA: V
variant AA: L
reference codon: Gtg
variant codon: Ctg
cDNA pos: 754
CDS pos: 685
translation impact: non_synonymous
protein sequence:
NP_002608.1
AA pos: 229
hgvs_p: NP_002608.1:p.Val229Leu
blosum: 1
SIFT: tolerated (0.34)
PolyPhen2: benign (0.002)
NM_153818.1
[CDS]
Reportable
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)
dbSNP
rs139345520
GMAF = 0.006589
TOPMED_MAF = 0.00661792813455657
ClinVar
296277
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Zellweger syndrome
clinvar_submission_scv = SCV000511689.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.018207,0.006237
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
183 / 7528 |
2.43% |
| America/Latino |
6 / 8836 |
0.0679% |
| East Asian |
0 / 7122 |
0% |
| Finnish |
0 / 3500 |
0% |
| Non-Finnish |
3 / 51760 |
0.0058% |
| Other |
0 / 638 |
0% |
| South Asian |
0 / 13724 |
0% |
| Total MAF |
192 / 93108 |
0.206% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
505 / 23028 |
2.19% |
| America/Latino |
36 / 33964 |
0.106% |
| Ashkenazi Jewish |
0 / 9952 |
0% |
| East Asian |
0 / 18668 |
0% |
| Finnish |
0 / 24396 |
0% |
| Non-Finnish |
9 / 122842 |
0.00733% |
| Other |
5 / 6260 |
0.0799% |
| South Asian |
0 / 30122 |
0% |
| Total MAF |
555 / 269232 |
0.206% |
Export Variant