Variant #0000065726 (NC_000001.10:g.197297734_197297735insAA, CRB1(NM_201253.2):c.253_254insAA)

Individual ID 00038175
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.197297734_197297735insAA
DNA change (hg38) g.197328604_197328605insAA
Published as p.Cys85ins2
ISCN -
DB-ID CRB1_000067
Variant remarks -
Reference PubMed: Aleman 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site AflII+;MseI+;SmlI+
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.253_254insAA r.(?) p.(Cys85*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038406 DNA ? - - CRB1 2 Frans Cremers