Variant #0000687257 (NC_000007.13:g.92113864_92115995del, PEX1(NM_000466.2):-)
Individual ID |
00310599 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92113864_92115995del |
DNA change (hg38) |
g.92484550_92486681del |
Published as |
[2927-15_3208-342delinsATAGTATAGA;3849+779_3849+2910del], *776_*2907del |
ISCN |
- |
DB-ID |
PEX1_000073 See all 2 reported entries |
Variant remarks |
no variant 2nd chromosome reported |
Reference |
PubMed: Ebberink 2011 |
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 |
Johan den Dunnen |

Variant on transcripts
Screenings
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