Variant #0000733183 (NC_000001.10:g.197291313_197316144dup, CRB1(NM_201253.2):c.71-6239_849-326dup)

Individual ID 00333948
Chromosome 1
Allele Both (homozygous)
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.197291313_197316144dup
DNA change (hg38) -
Published as dup ex4-5, chr1:197291313-197316144dup
ISCN -
DB-ID CRB1_000343
Variant remarks -
Reference PubMed: Stone 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
CRB1 NM_201253.2 +?/. - c.71-6239_849-326dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335174 DNA SEQ-NG - - CRB1 1 LOVD