Variant #0000927807 (NC_000014.8:g.21745430_21765363delinsN[330], NM_020366.3:c.-115_218+2395{0} (RPGRIP1))
| Individual ID |
00435216 |
| Chromosome |
14 |
| Allele |
Maternal (confirmed) |
| 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.21745430_21765363delinsN[330] |
| DNA change (hg38) |
g.21277271_21297204delinsN[330] |
| Published as |
- |
| ISCN |
- |
| DB-ID |
RPGRIP1_000302 |
| Variant remarks |
microdeletion involving exon 1 to 3 |
| Reference |
Torii 2023, submitted |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Kaoruko Torii |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Kaoruko Torii |
| Date created |
2023-06-13 04:19:33 +02:00 (CEST) |
| Date last edited |
2023-08-07 21:37:14 +02:00 (CEST) |

Variant on transcripts
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