Genomic variant #0000059786

Individual ID 00033058
Chromosome 1
Allele Parent #1
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.197403836G>A
DNA change (hg38) g.197434706G>A
Published as -
ISCN -
DB-ID CRB1_000001 See all 157 reported entries
Variant remarks -
Reference PubMed: Henderson 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +?/. 9 c.2843G>A r.(?) p.(Cys948Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033126 DNA SEQ - - CRB1 2 Johan den Dunnen