Variant #0000687127 (NC_000007.13:g.92147185_92147189del, PEX1(NM_000466.2):c.643_647del)
Individual ID |
00310545 |
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.92147185_92147189del |
DNA change (hg38) |
g.92517871_92517875del |
Published as |
643_647delACCAA |
ISCN |
- |
DB-ID |
PEX1_000061 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Nancy Braverman |

Variant on transcripts
Screenings
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