Variant #0000174538 (NC_000017.10:g.17129542_17129559del, FLCN(NM_144997.5):c.332_349del)

Individual ID 00107996
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17129542_17129559del
DNA change (hg38) g.17226228_17226245del
Published as -
ISCN -
DB-ID FLCN_000141 See all 6 reported entries
Variant remarks predicting protein change;?HPSHPQ? replaced by a single amino acid ?L?
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mitsuko Furuya
Database submission license No license selected
Created by Mitsuko Furuya
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +?/+? 5 c.332_349del r.(?) p.(His111_Gln116del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108463 DNA ? - - FLCN 1 Mitsuko Furuya