Variant #0000813692 (NC_000014.8:g.21770691del, NM_020366.3:c.535delG (RPGRIP1))

Individual ID 00385056
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.21770691del
DNA change (hg38) g.21302532del
Published as RPGRIP1 NM_020366: g.14594delG, c.535delG, p.E179Sfs11
ISCN -
DB-ID RPGRIP1_000023 See all 10 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) Retrieve
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPGRIP1 NM_020366.3 +/. - c.535delG r.(?) p.(Glu179Serfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386285 DNA SEQ-NG - targeted next-generation sequencing RPGRIP1 2 LOVD


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