Genomic variant #0000059863

Individual ID 00033092
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.197237556A>G
DNA change (hg38) g.197268426A>G
Published as -
ISCN -
DB-ID CRB1_000032
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRB1 NM_201253.2 -/. 1 c.14A>G - r.(?) p.(Asn5Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033160 DNA SEQ;SEQ-NG-S - - CRB1, TOPORS 2 Kornelia Neveling