Genomic variant #0000060398

Individual ID 00033098
Chromosome 8
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.55541177T>G
DNA change (hg38) g.54628617T>G
Published as -
ISCN -
DB-ID RP1_000092
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RP1 NM_006269.1 ?/. 4 c.4735T>G r.(?) p.(Leu1579Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033166 DNA SEQ;SEQ-NG-S - - GUCY2D, RP1 2 Kornelia Neveling