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.

9 entries on 1 page. Showing entries 1 - 9.
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     
-?/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - likely benign g.108363426C>T g.105601145C>T FKTN(NM_001079802.1):c.166C>T (p.(Arg56Cys), p.R56C), FKTN(NM_001079802.2):c.166C>T (p.R56C) - FKTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - benign g.108363426C>T g.105601145C>T FKTN(NM_001079802.1):c.166C>T (p.(Arg56Cys), p.R56C), FKTN(NM_001079802.2):c.166C>T (p.R56C) - FKTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - likely benign g.108363426C>T g.105601145C>T FKTN(NM_001079802.1):c.166C>T (p.(Arg56Cys), p.R56C), FKTN(NM_001079802.2):c.166C>T (p.R56C) - FKTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 5 c.166C>T r.(spl?) p.(Arg56Cys) Unknown - benign g.108363426C>T g.105601145C>T 165C>T (erroneous) - FKTN_000030 - PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - Healthy/Control 17878207.? PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys) Parent #1 - likely benign g.108363426C>T g.105601145C>T - - FKTN_000030 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - 1 Johan den Dunnen
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys) Parent #1 - likely benign g.108363426C>T g.105601145C>T - - FKTN_000030 - PubMed: Bouchet 2007 - - Germline - 7/214 - - - DNA SEQ - - Healthy/Control ? PubMed: Bouchet 2007 - - - France - - - - - 7 Johan den Dunnen
-/? 5 c.166C>T r.(?) p.(Arg56Cys) Unknown - benign g.108363426C>T g.105601145C>T - - FKTN_000030 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.166C>T r.(?) p.(Arg56Cys) Parent #1 - VUS g.108363426C>T g.105601145C>T - - FKTN_000030 conflicting interpretations of pathogenicity; 11 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277797 Germline - 11/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
?/. - c.166C>T r.(?) p.(Arg56Cys) Both (homozygous) - VUS g.108363426C>T g.105601145C>T - - FKTN_000030 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277797 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
Legend   How to query