Variant #0000874677 (NC_000014.8:g.21780621del, NM_020366.3:c.1107del (RPGRIP1))

Individual ID 00415267
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21780621del
DNA change (hg38) g.21312462del
Published as RPGRIP1,NM_020366.3,c.1107del, p.Glu370Asnfs*5
ISCN -
DB-ID RPGRIP1_000006 See all 33 reported entries
Variant remarks homozygous
Reference PubMed: Alfares 2018
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency frequency in 1500 in-house samples: 0
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 2022-08-10 20:39:58 +02:00 (CEST)
Date last edited 2022-08-10 20:44:50 +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.1107del r.(?) p.(Glu370Asnfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416549 DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory RPGRIP1 1 LOVD


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