Variant #0000296910 (NC_000006.11:g.143784039del, PEX3(NM_003630.2):c.206-14del)
Chromosome |
6 |
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.143784039del |
DNA change (hg38) |
g.143462902del |
Published as |
PEX3(NM_003630.2):c.206-14delT |
ISCN |
- |
DB-ID |
PEX3_000006 |
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_Groningen |

Variant on transcripts
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