Variant #0000792048 (NC_000001.10:g.197298092_197298098delAAATAGG, CRB1(NM_201253.2):c.611_617delAAATAGG)

Individual ID 00377817
Chromosome 1
Allele Both (homozygous)
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.197298092_197298098delAAATAGG
DNA change (hg38) -
Published as c.611_617delAAATAGG
ISCN -
DB-ID CRB1_000423
Variant remarks -
Reference PubMed: Avila Fernandez 2010
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 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. 2 c.611_617delAAATAGG r.(?) p.(Ile205Aspfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000379021 DNA PE blood - CRB1 2 LOVD