Variant #0000785578 (NC_000008.10:g.77895895_77895898del, PEX2(NM_000318.2):c.521_524del)
Individual ID |
00373510 |
Chromosome |
8 |
Allele |
Unknown |
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.77895895_77895898del |
DNA change (hg38) |
g.76983659_76983662del |
Published as |
- |
ISCN |
- |
DB-ID |
PEX2_000044 |
Variant remarks |
variant found in controls |
Reference |
PubMed: Liu 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
no |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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