Genomic variant #0000060131

Individual ID 00033144
Chromosome 4
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.651287C>T
DNA change (hg38) g.657498C>T
Published as -
ISCN -
DB-ID PDE6B_000005
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.04336 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDE6B NM_000283.3 ?/. 10i c.1401+4C>T - r.(spl?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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