Variant #0000760950 (NC_000017.10:g.17129636delC, NM_144997.5:c.250delG (FLCN))

Individual ID 00359612
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.17129636delC
DNA change (hg38) -
Published as -
ISCN -
DB-ID FLCN_000296
Variant remarks -
Reference PubMed: Liu et al. 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kenki Matsumoto
Database submission license No license selected
Created by Derek Lim
Date created 2021-04-01 20:48:50 +02:00 (CEST)
Date last edited 2021-04-01 21:02:27 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +/+ 5 c.250delG r.(?) p.(Gly84Alafs*46)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360842 DNA SEQ - - FLCN 1 Kenki Matsumoto


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