Variant #0000687298 (NC_000007.13:g.92147046_92147047del, PEX1(NM_000466.2):c.782_783del)
Individual ID |
00310626 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92147046_92147047del |
DNA change (hg38) |
g.92517732_92517733del |
Published as |
782_783delAA |
ISCN |
- |
DB-ID |
PEX1_000062 See all 6 reported entries |
Variant remarks |
- |
Reference |
PubMed: Yik 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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