Variant #0000675061 (NC_000023.10:g.67652736_67652747del, OPHN1(NM_002547.2):c.116_127del)
Individual ID |
00307050 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.67652736_67652747del |
DNA change (hg38) |
g.68432894_68432905del |
Published as |
- |
ISCN |
- |
DB-ID |
OPHN1_000086 |
Variant remarks |
- |
Reference |
PubMed: Nuovo 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Sara Nuovo |
Database submission license |
No license selected |
Created by |
Sara Nuovo |

Variant on transcripts
Screenings
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