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
Screenings
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