Variant #0000788432 (NC_000008.10:g.55538467dup, RP1(NM_006269.1):c.2025dup)

Individual ID 00375422
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.55538467dup
DNA change (hg38) g.54625907dup
Published as 2020dupA
ISCN -
DB-ID RP1_000330 See all 4 reported entries
Variant remarks -
Reference PubMed: Katagiri 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RP1 NM_006269.1 ?/. 4 c.2025dup r.(?) p.(Ser676IlefsTer22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376619 DNA SEQ-NG - WES - 7 LOVD