Variant #0000813654 (NC_000014.8:g.21762904C>T, NM_020366.3:c.154C>T (RPGRIP1))

Individual ID 00385018
Chromosome 14
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21762904C>T
DNA change (hg38) g.21294745C>T
Published as RPGRIP1 NM_020366: g.6807C>T, c.154C>T, p.R52X
ISCN -
DB-ID RPGRIP1_000003 See all 8 reported entries
Variant remarks -
Reference PubMed: Xu 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-06 17:52:46 +02:00 (CEST)
Date last edited 2021-10-08 12:10:40 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386247 DNA SEQ-NG - targeted next-generation sequencing RPGRIP1 2 LOVD


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