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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPGRIP1 NM_020366.3 +/. _1_3i c.-115_218+2395{0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000436692 DNA SEQ-NG Blood WGS - 2 Kaoruko Torii


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