Full data view for gene PDHX

Information The variants shown are described using the NM_003477.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
?/. - c.-27855del r.(?) p.(=) Unknown - VUS g.34910348del - APIP(NM_015957.4):c.283delA (p.S95Afs*8) - APIP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-302A>G r.(?) p.(=) Unknown - benign g.34937901A>G g.34916354A>G APIP(NM_015957.4):c.-70T>C, PDHX(NM_003477.3):c.-302A>G - APIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-277C>G r.(?) p.(=) Unknown - VUS g.34937926C>G g.34916379C>G PDHX(NM_001135024.1):c.8C>G (p.S3*) - APIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-272G>A r.(?) p.(=) Unknown - benign g.34937931G>A g.34916384G>A APIP(NM_015957.4):c.-100C>T, PDHX(NM_001135024.1):c.13G>A (p.G5S) - APIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-202A>G r.(?) p.(=) Unknown - likely benign g.34938001A>G g.34916454A>G PDHX(NM_001135024.1):c.83A>G (p.(Glu28Gly)) - APIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-165G>A r.(?) p.(=) Unknown - likely benign g.34938038G>A g.34916491G>A PDHX(NM_003477.3):c.-165G>A - PDHX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.44G>A r.(?) p.(Arg15His) Parent #1 - VUS g.34938246G>A g.34916699G>A - - PDHX_000014 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906998 Germline - 17/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 17 Mohammed Faruq
-/. - c.63C>T r.(?) p.(Pro21=) Unknown - benign g.34938265C>T g.34916718C>T PDHX(NM_003477.3):c.63C>T (p.P21=) - PDHX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.63C>T r.(?) p.(Pro21=) Unknown - benign g.34938265C>T g.34916718C>T PDHX(NM_003477.3):c.63C>T (p.P21=) - PDHX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.82C>T r.(?) p.(Leu28=) Unknown - VUS g.34938284C>T - PDHX(NM_003477.2):c.82C>T (p.L28=) - APIP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.171T>G r.(?) p.(Ile57Met) Unknown - VUS g.34952961T>G g.34931414T>G PDHX(NM_003477.3):c.171T>G (p.I57M) - PDHX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.241+3G>A r.spl? p.? Unknown - likely benign g.34953034G>A g.34931487G>A PDHX(NM_001135024.1):c.196+3G>A (p.?) - APIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299_301dup r.(?) p.(Val100_Thr101insIle) Unknown - VUS g.34969110_34969112dup g.34947563_34947565dup PDHX(NM_003477.2):c.299_301dupTTA (p.V100_T101insI), PDHX(NM_003477.3):c.299_301dupTTA (p.V100_T101insI) - APIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299_301dup r.(?) p.(Val100_Thr101insIle) Unknown - VUS g.34969110_34969112dup - PDHX(NM_003477.2):c.299_301dupTTA (p.V100_T101insI), PDHX(NM_003477.3):c.299_301dupTTA (p.V100_T101insI) - APIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301A>G r.(?) p.(Thr101Ala) Unknown - benign g.34969112A>G g.34947565A>G PDHX(NM_003477.3):c.301A>G (p.T101A) - APIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301A>G r.(?) p.(Thr101Ala) Unknown - benign g.34969112A>G g.34947565A>G PDHX(NM_003477.3):c.301A>G (p.T101A) - APIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329T>C r.(?) p.(Leu110Ser) Unknown - VUS g.34969140T>C g.34947593T>C PDHX(NM_003477.3):c.329T>C (p.L110S) - PDHX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.342+1G>T r.spl? p.? Unknown - VUS g.34969154G>T - PDHX(NM_003477.2):c.342+1G>T - APIP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411T>C r.(?) p.(Asp137=) Unknown - likely benign g.34978999T>C g.34957452T>C PDHX(NM_003477.2):c.411T>C (p.D137=) - PDHX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411T>C r.(?) p.(Asp137=) Unknown - likely benign g.34978999T>C - PDHX(NM_003477.2):c.411T>C (p.D137=) - PDHX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474G>A r.(?) p.(Glu158=) Unknown - likely benign g.34979062G>A - PDHX(NM_003477.2):c.474G>A (p.E158=) - APIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.526A>G r.(?) p.(Ile176Val) Unknown - likely benign g.34979114A>G - PDHX(NM_003477.2):c.526A>G (p.I176V) - APIP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.566G>A r.(?) p.(Arg189His) Unknown - benign g.34981990G>A g.34960443G>A PDHX(NM_003477.2):c.566G>A (p.R189H) - APIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577G>C r.(?) p.(Glu193Gln) Unknown - likely benign g.34982001G>C g.34960454G>C PDHX(NM_003477.2):c.577G>C (p.E193Q) - APIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640G>C r.(?) p.(Glu214Gln) Unknown - VUS g.34982064G>C g.34960517G>C PDHX(NM_003477.2):c.640G>C (p.E214Q) - APIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641+4T>C r.spl? p.? Parent #1 - benign g.34982069T>C g.34960522T>C - - PDHX_000015 194 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2767035 Germline - 194/2746 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 194 Mohammed Faruq
-/. - c.641+4T>C r.spl? p.? Both (homozygous) - benign g.34982069T>C g.34960522T>C - - PDHX_000015 28 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2767035 Germline - 28/2746 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 28 Mohammed Faruq
?/. - c.644A>G r.(?) p.(Asp215Gly) Both (homozygous) - VUS g.34988189A>G g.34966642A>G - - PDHX_000011 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
+?/. - c.644A>G r.(?) p.(Asp215Gly) Both (homozygous) - likely pathogenic g.34988189A>G g.34966642A>G - - PDHX_000011 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
+?/. - c.644A>G r.(?) p.(Asp215Gly) Both (homozygous) - likely pathogenic g.34988189A>G g.34966642A>G - - PDHX_000011 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
?/. - c.674C>T r.(?) p.Thr225Met Unknown ACMG VUS g.34988219C>T g.34966672C>T - - PDHX_000012 ACMG grading: BP4; probably not pathogenic, gnomAD MAF 0.0006 - - rs148645836 Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.674C>T r.(?) p.Thr225Met Unknown ACMG VUS g.34988219C>T g.34966672C>T - - PDHX_000012 probably not pathogenic, gnomAD MAF 0.0006 - - rs148645836 Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
-?/. - c.674C>T r.(?) p.(Thr225Met) Unknown - likely benign g.34988219C>T - PDHX(NM_003477.2):c.674C>T (p.T225M) - PDHX_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699A>G r.(?) p.(Pro233=) Unknown - likely benign g.34988244A>G - PDHX(NM_003477.2):c.699A>G (p.P233=) - APIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.749C>T r.(?) p.(Thr250Ile) Unknown - likely benign g.34988294C>T g.34966747C>T PDHX(NM_003477.3):c.749C>T (p.T250I) - PDHX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.858T>C r.(?) p.(Val286=) Unknown - benign g.34991727T>C g.34970180T>C PDHX(NM_003477.3):c.858T>C (p.V286=) - PDHX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.858T>C r.(?) p.(Val286=) Unknown - benign g.34991727T>C g.34970180T>C PDHX(NM_003477.3):c.858T>C (p.V286=) - PDHX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.976G>C r.(?) p.(Val326Leu) Parent #1 - VUS g.34999682G>C g.34978135G>C - - APIP_000011 conflicting interpretations of pathogenicity; 26 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35560997 Germline - 26/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 26 Mohammed Faruq
-/. - c.1023+16C>G r.(=) p.(=) Unknown - benign g.34999745C>G g.34978198C>G PDHX(NM_003477.3):c.1023+16C>G - PDHX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1023+16C>G r.(=) p.(=) Unknown - benign g.34999745C>G g.34978198C>G PDHX(NM_003477.3):c.1023+16C>G - PDHX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1085A>C r.(?) p.Asp362Ala Unknown ACMG VUS g.35006178A>C g.34984631A>C - - PDHX_000013 ACMG grading: PP3,PM2 - - - Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.1085A>C r.(?) p.Asp362Ala Unknown ACMG VUS g.35006178A>C g.34984631A>C - - PDHX_000013 ACMG grading: PM2,PP3 - - - Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.1182+14_1182+17del r.(=) p.(=) Unknown - VUS g.35006289_35006292del g.34984742_34984745del PDHX(NM_003477.2):c.1182+14_1182+17delAAGA - APIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1286C>G r.(?) p.(Thr429Ser) Unknown - likely benign g.35016499C>G g.34994952C>G PDHX(NM_003477.3):c.1286C>G (p.T429S) - PDHX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1331G>A r.(?) p.(Arg444Lys) Unknown - benign g.35016544G>A g.34994997G>A PDHX(NM_003477.2):c.1331G>A (p.R444K) - APIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1462A>G r.(?) p.(Lys488Glu) Unknown - likely benign g.35016675A>G g.34995128A>G PDHX(NM_003477.2):c.1462A>G (p.K488E) - APIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503C>T r.(?) p.(Ala501=) Unknown - likely benign g.35016716C>T - PDHX(NM_003477.2):c.1503C>T (p.A501=) - APIP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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