Variant #0000640605 (NC_000007.13:g.92147172_92147175del, PEX1(NM_000466.2):c.657_660del)
Individual ID |
00283713 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92147172_92147175del |
DNA change (hg38) |
g.92517858_92517861del |
Published as |
- |
ISCN |
- |
DB-ID |
PEX1_000270 |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database, PubMed: Richards 2015 |
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 |
Global Variome, with Curator vacancy |

Variant on transcripts
Screenings
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