All variants in the PDHA1 gene

Information The variants shown are described using the NM_000284.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
-/. - c.831+15C>T r.(=) p.(=) - benign g.19373890C>T g.19355772C>T - - PDHA1_000006 - - - rs190157093 Germline - - - 0 - Andreas Laner
-?/. - c.831+15C>T r.(=) p.(=) - likely benign g.19373890C>T g.19355772C>T PDHA1(NM_001173454.2):c.945+15C>T - PDHA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
Legend   How to query