Variant #0000686240 (NC_000006.11:g.143806281T>G, PEX3(NM_003630.2):c.942-8T>G)
Individual ID |
00309915 |
Chromosome |
6 |
Allele |
Both (homozygous) |
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.143806281T>G |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PEX3_000002 |
Variant remarks |
- |
Reference |
PubMed: Muntau 2000, PubMed: Ghaedi 2000 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Nancy Braverman |

Variant on transcripts
Screenings
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