Genomic variant #0000059861

Individual ID 00033144
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197297616C>G
DNA change (hg38) g.197328486C>G
Published as -
ISCN -
DB-ID CRB1_000031 See all 6 reported entries
Variant remarks considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease, not segregating with disease in other family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00054 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRB1 NM_201253.2 +?/. 2 c.135C>G - r.(?) p.(Cys45Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033212 DNA SEQ;SEQ-NG-S - - CRB1, PDE6B, SEMA4A 5 Kornelia Neveling