Genomic variant #0000060212

Individual ID 00033011
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.55534723delC
DNA change (hg38) g.54622163delC
Published as -
ISCN -
DB-ID RP1_000007
Variant remarks -
Reference PubMed: Aldahmesh 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RP1 NM_006269.1 +/. 3 c.662delC - r.(?) p.(Ala221Glyfs*43)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033079 DNA SEQ - - RP1 1 Johan den Dunnen