Variant #0000060459 (NC_000014.8:g.21762904C>T, NM_020366.3:c.154C>T (RPGRIP1))

Individual ID 00033353
Chromosome 14
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21762904C>T
DNA change (hg38) g.21294745C>T
Published as -
ISCN -
DB-ID RPGRIP1_000003 See all 8 reported entries
Variant remarks -
Reference PubMed: Abu-Safieh-2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Leen Abu Safieh
Database submission license No license selected
Created by Leen Abu Safieh
Date created 2012-09-18 14:12:07 +02:00 (CEST)
Date last edited 2021-08-10 23:45:20 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPGRIP1 NM_020366.3 +/. 2 c.154C>T r.(?) p.(Arg52*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033421 DNA SEQ - - RPGRIP1 2 Leen Abu Safieh


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