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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 8 c.859del r.(?) p.(Thr287Hisfs*2) Parent #2 - pathogenic g.108377637del g.105615356del - - FKTN_000029 - PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - LGMD FamPat31a/Pat45 PubMed: Godfrey 2007, PubMed: O'Grady 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - - - - - - - 2 Johan den Dunnen
+/. 8 c.859del r.(?) p.(Thr287Hisfs*2) Parent #2 - pathogenic g.108377637del g.105615356del - - FKTN_000029 - PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - LGMD FamPat31b PubMed: Clement-Pat2, PubMed: Godfrey 2007 relative of FamPat31a ? - - - - - - - 1 Johan den Dunnen
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