Full data view for gene PDK3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005391.4 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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.36G>A r.(?) p.(Val12=) Unknown - likely benign g.24483608G>A g.24465491G>A PDK3(NM_001142386.2):c.36G>A (p.V12=) - PDK3_010012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51G>C r.(?) p.(Glu17Asp) Unknown - likely benign g.24483623G>C g.24465506G>C PDK3(NM_001142386.3):c.51G>C (p.E17D) - PDK3_010007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106+39dup r.(=) p.(=) Unknown - VUS g.24483717dup g.24465600dup - - PDK3_010003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.249-9del r.(=) p.(=) Unknown - benign g.24516937del g.24498820del PDK3(NM_001142386.3):c.249-9delT - PDK3_010005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.249-9dup r.(=) p.(=) Unknown - benign g.24516937dup g.24498820dup PDK3(NM_001142386.3):c.249-9dupT - PDK3_010008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.336G>C r.(?) p.(=) Parent #1 - likely benign g.24521459G>C g.24503342G>C p.L112L - PDK3_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 - - 1 Johan den Dunnen
-?/. 4 c.341A>C r.(?) p.(Lys114Thr) Parent #1 - likely benign g.24521464A>C g.24503347A>C - - PDK3_000004 - PubMed: Kennerson 2013 - - Germline no 1/63 families - 0 - DNA SEQ - - CMT 23297365-Fam2 PubMed: Kennerson 2013 family - - - - - 0 - - 1 Johan den Dunnen
?/. 4 c.376A>G r.(?) p.(Met126Val) Parent #1 - VUS g.24521499A>G g.24503382A>G - - PDK3_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.376A>G r.(?) p.(Met126Val) Unknown - likely benign g.24521499A>G g.24503382A>G PDK3(NM_001142386.2):c.376A>G (p.(Met126Val)), PDK3(NM_001142386.3):c.376A>G (p.M126V) - PDK3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376A>G r.(?) p.(Met126Val) Unknown - likely benign g.24521499A>G g.24503382A>G PDK3(NM_001142386.2):c.376A>G (p.(Met126Val)), PDK3(NM_001142386.3):c.376A>G (p.M126V) - PDK3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.473G>A r.(?) p.(Arg158His) Maternal (confirmed) - pathogenic (dominant) g.24521596G>A g.24503479G>A G473A - PDK3_000003 linkage, exome sequencing; not in 1200 control chromosomes PubMed: Kennerson 2013 - - Germline yes 1/63 families - 0 - DNA MCA, SEQ, SEQ-NG-I - - CMT 23297365-PatM PubMed: Kennerson 2013 4-generation family, 8 affecteds M no Australia - - 0 - - 8 Johan den Dunnen
+/. 4 c.473G>A r.(?) p.(Arg158His) Parent #1 - pathogenic (dominant) g.24521596G>A g.24503479G>A G473A - PDK3_000003 linkage, exome sequencing; not in 1200 control chromosomes PubMed: Kennerson 2013 - - Germline yes 1/63 families - 0 - DNA MCA, SEQ, SEQ-NG-I - - CMT 23297365-PatF PubMed: Kennerson 2013 4-generation family, 12 affected carrier females F no Australia - - 0 - - 12 Johan den Dunnen
+/. 4 c.473G>A r.(?) p.Arg158His Unknown - NA g.24521596G>A g.24503479G>A - - PDK3_000003 expression cloning, PKD3 hyperactivity (5x increased) PubMed: Kennerson 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.473G>A r.(?) p.Arg158His Unknown - NA g.24521596G>A g.24503479G>A - - PDK3_000003 expression cloning, significant increase in L2-binding affinity PubMed: Kennerson 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.502C>A r.(?) p.(His168Asn) Parent #1 ACMG likely pathogenic g.24521625C>A g.24503508C>A - - PDK3_010006 ACMG pm1, pm2, pm5 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat104 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.596-54_596-53del r.(=) p.(=) Maternal (inferred) - VUS g.24536996_24536997del g.24518879_24518880del - - PDK3_010001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.596-54_596-53del r.(=) p.(=) Unknown - VUS g.24536996_24536997del g.24518879_24518880del - - PDK3_010001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 10 c.1001A>C r.(?) p.(Tyr334Ser) Parent #1 - likely benign g.24549811A>C g.24531694A>C - - PDK3_000005 - PubMed: Kennerson 2013 - - Germline no 1/63 families - 0 - DNA SEQ - - CMT 23297365-Fam3 PubMed: Kennerson 2013 family - - - - - 0 - - 1 Johan den Dunnen
-/. - c.*5072A>C r.(=) p.(=) Unknown - benign g.24557261A>C g.24539144A>C PDK3(NM_001142386.3):c.1228A>C (p.K410Q) - PDK3_010011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query