Full data view for gene PDHB

Information The variants shown are described using the NM_000925.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1i c.42+1G>A - r.spl p.0? Paternal (confirmed) g.58419494C>T g.58433767C>T - - PDHB_000001 - - - - Uniparental disomy, paternal allele - - - 0 - DNA, RNA PCRdig, RT-PCR, SEQ, SEQ-NG-I - - PDHBD - - - M no Spain - 16y 0 - - 1 Claudio Asencio Salcedo
-?/. - c.132T>C likely benign r.(?) p.(=) Unknown g.58417676A>G - PDHB(NM_000925.3):c.132T>C (p.D44=) - PDHB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.132T>C likely benign r.(?) p.(=) Unknown g.58417676A>G - PDHB(NM_000925.3):c.132T>C (p.D44=) - PDHB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198A>G likely benign r.(?) p.(=) Unknown g.58417610T>C - PDHB(NM_000925.3):c.198A>G (p.A66=) - PDHB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.301A>G - r.301a>g p.Met101Val Maternal (confirmed) g.58417322T>C g.58431595T>C - - PDHB_000002 - - - - Uniparental disomy, maternal allele - - - 0 - DNA, RNA PCRdig, RT-PCR, SEQ, SEQ-NG-I - - PDHBD - - - M no Spain - 16y 0 - - 1 Claudio Asencio Salcedo
-?/. - c.303+16T>C likely benign r.(=) p.(=) Unknown g.58417304A>G - PDHB(NM_000925.3):c.303+16T>C - PDHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.435A>G benign r.(?) p.(=) Unknown g.58416538T>C - PDHB(NM_000925.3):c.435A>G (p.R145=) - PDHB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.790G>A VUS r.(?) p.(Glu264Lys) Unknown g.58415437C>T - PDHB(NM_000925.3):c.790G>A (p.E264K) - PDHB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.859A>G benign r.(?) p.(Asn287Asp) Unknown g.58414275T>C - PDHB(NM_000925.3):c.859A>G (p.N287D) - PDHB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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