All 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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
?/. 4 c.376A>G r.(?) p.(Met126Val) - VUS g.24521499A>G g.24503382A>G - - PDK3_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - - - Johan den Dunnen
-?/. - c.376A>G r.(?) p.(Met126Val) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.376A>G r.(?) p.(Met126Val) - 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 - - - - - VKGL-NL_Utrecht
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