Genomic variant #0000077011

Individual ID 00048063
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.17119709del
DNA change (hg38) g.17216395del
Published as 1285delC
ISCN -
DB-ID FLCN_000030 See all 5 reported entries
Variant remarks -
Reference -
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 James Whitworth




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FLCN NM_144997.5 +/+ 11 c.1285del pathogenic r.(?) p.(His429Thrfs*39)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048188 DNA SEQ - - FLCN, MSH2 2 James Whitworth