Variant #0000646833 (NC_000007.13:g.92148392C>G, PEX1(NM_000466.2):c.274G>C)
Individual ID |
00289016 |
Chromosome |
7 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92148392C>G |
DNA change (hg38) |
g.92519078C>G |
Published as |
- |
ISCN |
- |
DB-ID |
PEX1_000265 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Sandro Banfi |

Variant on transcripts
Screenings
|
|