Variant #0000686412 (NC_000008.10:g.77896070_77896076del, PEX2(NM_000318.2):c.339_345del)
Individual ID |
00309974 |
Chromosome |
8 |
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.77896070_77896076del |
DNA change (hg38) |
- |
Published as |
339_345delCAGGTGG |
ISCN |
- |
DB-ID |
PEX2_000018 See all 2 reported entries |
Variant remarks |
unknown variant 2nd chromosome |
Reference |
PubMed: Ebberink 2011 |
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 |
Shandi Hiebler |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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