Full data view for gene FKTN

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001079802.1 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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     
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #2 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 3 affecteds - - Japan - - - - - 3 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #2 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA SEQ - - MDC ? PubMed: Matsumoto 2005 3 affecteds - - Japan - - - - - 3 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Maternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #2 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Vuillaumier-Barrot 2009 - - Germline - - - - - DNA SEQ - - LGMD 19179078.4 PubMed: Vuillaumier-Barrot 2009 - M - France white >7y - - - 1 Rosário dos Santos
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - M - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - M - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Maternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Maternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Yis 2010 - - Germline - - - - - DNA SEQ - - WWS 20961758-Pat1 PubMed: Yis 2010 - F - Greece;Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #1 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.139C>T r.(?) p.(Arg47Ter) Parent #1 - pathogenic (recessive) g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat123 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. - c.139C>T r.(?) p.(Arg47Ter) Parent #1 - pathogenic (recessive) g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat124 PubMed: Song 2021 - F - China - - - - - 1 Johan den Dunnen
+/. - c.139C>T r.(?) p.(Arg47Ter) Parent #1 - pathogenic (recessive) g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat126 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
Legend   How to query