Variant #0000821602 (NC_000014.8:g.21784106_21791536del, NM_020366.3:c.? (RPGRIP1))

Individual ID 00390401
Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21784106_21791536del
DNA change (hg38) -
Published as chr14:g.21784106_21791536del
ISCN -
DB-ID SERPINA1_000009 See all 83 reported entries
Variant remarks heterozygous
Reference PubMed: Turro 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
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 2021-11-10 12:02:36 +01:00 (CET)
Date last edited 2021-11-10 12:05:19 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPGRIP1 NM_020366.3 +?/. - c.? r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391642 DNA SEQ-NG-I blood whole genome sequencing RPGRIP1 2 LOVD


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.