All variants in the PDHA1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.406G>A r.(?) p.(Ala136Thr) - likely benign g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.406G>A r.(?) p.(Ala136Thr) - likely benign g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.406G>A r.(?) p.(Ala136Thr) - VUS g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.406G>A r.(?) p.(Ala136Thr) - likely benign g.19369513G>A - PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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