Variant #0000174395 (NC_000017.10:g.17131306del, NM_144997.5:c.147del (FLCN))

Individual ID 00107986
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17131306del
DNA change (hg38) g.17227992del
Published as 602delA
ISCN -
DB-ID FLCN_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license No license selected
Created by Derek Lim
Date created 2009-02-23 00:00:00 +01:00 (CET)
Date last edited 2020-07-13 10:31:24 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +/+ 4 c.147del r.(?) p.(Gly50Valfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108453 DNA ? - - FLCN 1 Johan den Dunnen


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