Variant #0000640616 (NC_000007.13:g.92148392C>G, PEX1(NM_000466.2):c.274G>C)
Individual ID |
00283724 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92148392C>G |
DNA change (hg38) |
g.92519078C>G |
Published as |
- |
ISCN |
- |
DB-ID |
PEX1_000265 See all 2 reported entries |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database, PubMed: Rosewich 2005 |
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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