Genomic variant #0000060133

Individual ID 00033095
Chromosome 4
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.656978T>C
DNA change (hg38) g.663189T>C
Published as -
ISCN -
DB-ID PDE6B_000006 See all 4 reported entries
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) Variant not found in online data sets
Owner Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDE6B NM_000283.3 +/. 15i c.1920+2T>C r.(spl?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033163 DNA SEQ;SEQ-NG-S - - PDE6B, PRPH2, RGR, SNRNP200 5 Kornelia Neveling