Unique variants in the PDK3 gene

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.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.36G>A r.(?) p.(Val12=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.51G>C r.(?) p.(Glu17Asp) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.106+39dup r.(=) p.(=) - VUS g.24483717dup g.24465600dup - - PDK3_010003 - - - - Germline - - - - - Yu Sun
-/. 1 - c.249-9del r.(=) p.(=) - benign g.24516937del g.24498820del PDK3(NM_001142386.3):c.249-9delT - PDK3_010005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.249-9dup r.(=) p.(=) - benign g.24516937dup g.24498820dup PDK3(NM_001142386.3):c.249-9dupT - PDK3_010008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 4 c.336G>C r.(?) p.(=) - likely benign g.24521459G>C g.24503342G>C p.L112L - PDK3_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 4 c.341A>C r.(?) p.(Lys114Thr) - likely benign g.24521464A>C g.24503347A>C - - PDK3_000004 - PubMed: Kennerson 2013 - - Germline no 1/63 families - - - Johan den Dunnen
-?/., ?/. 3 4 c.376A>G r.(?) p.(Met126Val) - likely benign, VUS 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 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht
+/. 4 4 c.473G>A r.(?) p.(Arg158His), p.Arg158His - NA, pathogenic (dominant) g.24521596G>A g.24503479G>A G473A - PDK3_000003 expression cloning, PKD3 hyperactivity (5x increased), 2 more items PubMed: Kennerson 2013 - - Germline, In vitro (cloned) yes 1/63 families - - - Johan den Dunnen
+?/. 1 - c.502C>A r.(?) p.(His168Asn) 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 - - - Johan den Dunnen
?/. 2 - c.596-54_596-53del r.(=) p.(=) - VUS g.24536996_24536997del g.24518879_24518880del - - PDK3_010001 - - - - Germline - - - - - Yu Sun
-?/. 1 10 c.1001A>C r.(?) p.(Tyr334Ser) - likely benign g.24549811A>C g.24531694A>C - - PDK3_000005 - PubMed: Kennerson 2013 - - Germline no 1/63 families - - - Johan den Dunnen
-/. 1 - c.*5072A>C r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
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