Variant #0000642685 (NC_000017.10:g.17129622_17129635del, NM_144997.5:c.256_269del (FLCN))

Individual ID 00285798
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.17129622_17129635del
DNA change (hg38) g.17226308_17226321del
Published as -
ISCN -
DB-ID FLCN_000224
Variant remarks -
Reference PubMed: Lichte et al. 2012. 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Derek Lim
Database submission license No license selected
Created by Derek Lim
Date created 2020-02-06 15:50:03 +01:00 (CET)
Date last edited 2020-07-13 10:31:09 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +/+ 5 c.256_269del r.(?) p.(Ser87Alafs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286953 DNA ? - - FLCN 1 Derek Lim


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