Genomic variant #0000059797

Individual ID 00033091
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.197298095T>C
DNA change (hg38) g.197328965T>C
Published as -
ISCN -
DB-ID CRB1_000002 See all 11 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
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00038 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.614T>C - r.(?) p.(Ile205Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033159 DNA SEQ;SEQ-NG-S - - CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 Kornelia Neveling