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.844A>C r.(?) p.(Met282Leu) - likely benign g.19375782A>C g.19357664A>C PDHA1(NM_001173454.1):c.958A>C (p.M320L) - PDHA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 9 c.844A>C r.(?) p.(Met282Leu) - VUS g.19375782A>C g.19357664A>C M282L - PDHA1_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.844A>C r.(?) p.(Met282Leu) - benign g.19375782A>C g.19357664A>C - - PDHA1_000022 46 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229137 Germline - 46/2793 individuals - 0 - Mohammed Faruq
-/. - c.844A>C r.(?) p.(Met282Leu) - benign g.19375782A>C g.19357664A>C - - PDHA1_000022 19 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229137 Germline - 19/2793 individuals - 0 - Mohammed Faruq
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