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.
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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     
-/. - c.999A>C r.(?) p.(Glu333Asp) - benign g.19377133A>C g.19359015A>C PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D) - PDHA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.999A>C r.(?) p.(Glu333Asp) - VUS g.19377133A>C g.19359015A>C PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D) - PDHA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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