Genomic variant #0000060183

Individual ID 00033095
Chromosome 10
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.86017767A>G
DNA change (hg38) g.84258011A>G
Published as -
ISCN -
DB-ID RGR_000001 See all 4 reported entries
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) 0.00346 View details
Owner Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RGR NM_002921.3 -/. 6i c.756+5A>G 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