All variants in the PDHA1 gene

Information The variants shown are described using the NM_000284.3 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     
+/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6) ACMG pathogenic g.19377740_19377743dup g.19359622_19359625dup - - PDHA1_000011 - PubMed: Trujillano 2017 - - De novo - - - 0 - Daniel Trujillano
+?/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6) - likely pathogenic (dominant) g.19377740_19377743dup g.19359622_19359625dup - - PDHA1_000011 - - - - De novo - - - 0 - Alejandro Brea-Fernández
+/. - c.1142_1145dup r.(?) p.(Trp383SerfsTer6) - pathogenic g.19377740_19377743dup - PDHA1(NM_001173454.1):c.1256_1259dupATCA (p.W421Sfs*6) - PDHA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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