All variants in the PDHA1 gene

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

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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.*11342G>A r.(=) p.(=) - benign g.19389113G>A g.19370995G>A MAP3K15(NM_001001671.3):c.3364C>T (p.R1122*) - MAP3K15_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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