Genomic variant #0000059834

Individual ID 00033058
Chromosome 1
Allele Parent #2
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.197313475_197313476insG
DNA change (hg38) g.197344345_197344346insG
Published as Q240fsX20*
ISCN -
DB-ID CRB1_000014
Variant remarks -
Reference PubMed: Henderson 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +?/. 3 c.717_718insG r.(?) p.(Gln240Alafs*21)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033126 DNA SEQ - - CRB1 2 Johan den Dunnen