Genomic variant #0000060145

Individual ID 00033144
Chromosome 4
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.629702T>C
DNA change (hg38) g.635913T>C
Published as -
ISCN -
DB-ID PDE6B_000013 See all 5 reported entries
Variant remarks predicted benign
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00538 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDE6B NM_000283.3 -/. 3 c.655T>C - r.(?) p.(Tyr219His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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