Genomic variant #0000060377

Individual ID 00033026
Chromosome 8
Allele Unknown
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.55534671T>C
DNA change (hg38) g.54622111T>C
Published as -
ISCN -
DB-ID RP1_000082 See all 5 reported entries
Variant remarks not in 200 control chromosomes
Reference PubMed: Payne 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/266 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00423 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RP1 NM_006269.1 -/. 2i c.616-6T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033094 DNA SEQ - - RP1 1 Johan den Dunnen