Genomic variant #0000060192

Individual ID 00033024
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.55528460T>C
DNA change (hg38) g.54615900T>C
Published as -
ISCN -
DB-ID RP1_000000 See all 6 reported entries
Variant remarks not found in controls
Reference PubMed: Bowne 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
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 -/. 1 c.-315T>C - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033092 DNA SEQ - - RP1 1 Johan den Dunnen