Variant #0000475800 (NC_000001.10:g.197297621dup, CRB1(NM_201253.2):c.140dup)

Individual ID 00231993
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.197297621dup
DNA change (hg38) g.197328491dup
Published as -
ISCN -
DB-ID CRB1_000272
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1204 cases with retinitis pigmentosa
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. - c.140dup r.(?) p.(Asp47Glufs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000233092 DNA SEQ-NG - - CRB1 1 Yoshito Koyanagi