Variant #0000824560 (NC_000023.10:g.67412429_67434173dup, OPHN1(NM_002547.2):c.487-358_1276+333dup)
Individual ID |
00392513 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
other |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.67412429_67434173dup |
DNA change (hg38) |
g.68192587_68214331dup |
Published as |
- |
ISCN |
- |
DB-ID |
OPHN1_000102 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
SUB10705428 |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Dr. Laxmi Kirola |
Database submission license |
No license selected |
Created by |
Dr. Laxmi Kirola |
Date created |
2021-11-23 08:58:30 +01:00 (CET) |
Date last edited |
2021-11-25 09:46:59 +01:00 (CET) |

Variant on transcripts
Screenings
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