Genomic variant #0000060445

Individual ID 00033120
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.38147286_38147288del
DNA change (hg38) g.38288033_38288035del
Published as -
ISCN -
DB-ID RPGR_000408 See all 5 reported entries
Variant remarks not segregating with disease in other family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0195 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RPGR NM_000328.2 ?/. 14 c.1579_1581del - r.(?) p.(Gln527del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033188 DNA SEQ;SEQ-NG-S - - RHO, RPGR 2 Kornelia Neveling