Variant #0000351358 (NC_000012.11:g.7343153A>G, PEX5(NM_000319.4):c.147+33A>G)
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.7343153A>G |
DNA change (hg38) |
g.7190557A>G |
Published as |
PEX5(NM_001131023.1):c.180A>G (p.A60=) |
ISCN |
- |
DB-ID |
PEX5_000033 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Nijmegen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Nijmegen |

Variant on transcripts
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