Variant #0000686373 (NC_000012.11:g.7361115A>G, PEX5(NM_000319.4):c.1220A>G)
Individual ID |
00309937 |
Chromosome |
12 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.7361115A>G |
DNA change (hg38) |
- |
Published as |
[1244A>G]+[548-549dupATCG;604G>C] (N415S) |
ISCN |
- |
DB-ID |
PEX5_000004 |
Variant remarks |
- |
Reference |
PubMed: Ebberink 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Nancy Braverman |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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