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.858_861dup r.(?) p.(Arg288Leufs*10) - pathogenic (dominant) g.19375796_19375799dup g.19357678_19357681dup 856_859dupACTT - PDHA1_000036 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - 0 - Johan den Dunnen
+/. - c.858_861dup r.(?) p.(Arg288LeufsTer10) - pathogenic g.19375796_19375799dup - PDHA1(NM_000284.3):c.858_861dupTTAC (p.R288Lfs*10) - PDHA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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