Variant #0000063051 (NC_000017.10:g.17135176G>A, NM_144997.5:c.-93C>T (FLCN))

Individual ID 00035856
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17135176G>A
DNA change (hg38) g.17231862G>A
Published as -
ISCN -
DB-ID FLCN_000160
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs115413827
Origin Germline
Segregation -
Frequency MAF 0.02
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2016-11-12 11:03:31 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 -/. 1 c.-93C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035926 DNA SEQ - - FLCN 1 Andreas Laner


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