Full data view for gene FLCN

Information The variants shown are described using the NM_144997.5 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG 774-5delGTinsCAC - FLCN_000008 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - - - - 0 - - 15 Johan den Dunnen
+/. 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Parent #1 - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG - - FLCN_000008 - Vernooij et al submitted - - Germline - - - 0 - DNA SEQ blood - BHDS - - - - - Netherlands - - 0 - - 1 Michel van Geel
+/. 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG - - FLCN_000008 - Vernooij et al submitted - - Unknown - - - 0 - DNA SEQ blood - BHDS - - - - - Netherlands - - 0 - - 1 Michel van Geel
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Toro 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro 2008 - - - - - - 0 - - 4 Derek Lim
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Toro et al. 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro et al. 2008 - - - United States - - 0 - - 1 Kenki Matsumoto
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - Netherlands - - 0 - - 1 Derek Lim
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - Netherlands - - 0 - - 2 Kenki Matsumoto
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - Netherlands - - 0 - - 9 Kenki Matsumoto
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Johannesma et al. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Johannesma et al. 2016 - - - Netherlands - - 0 - - 1 Kenki Matsumoto
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