Genomic variant #0000060389

Individual ID 00033033
Chromosome 8
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.55541513T>C
DNA change (hg38) g.54628953T>C
Published as 5070T>C
ISCN -
DB-ID RP1_000089 See all 7 reported entries
Variant remarks -
Reference PubMed: Payne 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 93/266 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.24789 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RP1 NM_006269.1 -/. 4 c.5071T>C - r.(?) p.(Ser1691Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033101 DNA SEQ - - RP1 2 Johan den Dunnen