Full data view for gene PDHA2

Information The variants shown are described using the NM_005390.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.679A>G r.(?) p.(Met227Val) Both (homozygous) - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - rs200969445 Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG-I whole blood - BD, INFM FAM53-412 PubMed: Yildrim 2018 family, 7 affecteds (3M, 4F), parents first cousins M yes Algeria - >31y - Yes - 7 Yeşerin Yıldırım
+?/. 1 c.679A>G r.(?) p.(Met227Val) Both (homozygous) - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - rs200969445 Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-401 PubMed: Yildrim 2018 - M yes Algeria - >43y - - - 1 Yeşerin Yıldırım
+?/. 1 c.679A>G r.(?) p.(Met227Val) Both (homozygous) - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-406 PubMed: Yildrim 2018 - M yes Algeria - >37y - - - 1 Yeşerin Yıldırım
+?/. 1 c.679A>G r.(?) p.(Met227Val) Both (homozygous) - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - rs200969445 Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-408 PubMed: Yildrim 2018 - F yes Algeria - >36y - - - 1 Yeşerin Yıldırım
+?/. 1 c.679A>G r.(?) p.(Met227Val) Unknown - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - rs200969445 Germline yes - - - - DNA SSCA Whole blood - BD FAM53-302 PubMed: Yildrim 2018 - F yes Algeria - >62y - - - 1 Yeşerin Yıldırım
+?/. 1 c.679A>G r.(?) p.(Met227Val) Unknown - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - rs200969445 Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-409 PubMed: Yildrim 2018 brother M yes Algeria - >43y - - - 1 Yeşerin Yıldırım
+?/. 1 c.679A>G r.(?) p.(Met227Val) Unknown - likely pathogenic g.96761980A>G g.95840829A>G - - PDHA2_000001 - PubMed: Yildrim 2018 - rs200969445 Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-413 PubMed: Yildrim 2018 - M yes Algeria - >30y - - - 1 Yeşerin Yıldırım
+?/. - c.679A>G r.(?) p.(Met227Val) Both (homozygous) - likely pathogenic (recessive) g.96761980A>G g.95840829A>G NM_005390.5:c.679A>G - PDHA2_000001 - PubMed: Kherraf 2022, Journal: Kherraf 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM P0253 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - 1 Johan den Dunnen
+?/. - c.679A>G r.(?) p.(Met227Val) Both (homozygous) - likely pathogenic (recessive) g.96761980A>G g.95840829A>G NM_005390.5:c.679A>G - PDHA2_000001 - PubMed: Kherraf 2022, Journal: Kherraf 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM P0144 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - 1 Johan den Dunnen
+/. - c.679A>G r.(?) p.(Met227Val) Unknown - pathogenic g.96761980A>G - - - PDHA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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