Variant #0000065526 (NC_000001.10:g.197297593del, CRB1(NM_201253.2):c.112del)

Individual ID 00037975
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.197297593del
DNA change (hg38) g.197328463del
Published as Asn37 del1
ISCN -
DB-ID CRB1_000065 See all 3 reported entries
Variant remarks unknown variant 2nd chromosome
Reference PubMed: Stone 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Frans Cremers
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Frans Cremers
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. 2 c.112del r.(?) p.(Ser38Leufs*33)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038206 DNA SSCA;PCR;SEQ - - CRB1 1 Frans Cremers