Unique variants in the PDHX gene

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

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Reported     

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     
?/. 1 - c.-27855del r.(?) p.(=) - VUS g.34910348del - APIP(NM_015957.4):c.283delA (p.S95Afs*8) - APIP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-302A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.-277C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-272G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.-202A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.-165G>A r.(?) p.(=) - likely benign g.34938038G>A g.34916491G>A PDHX(NM_003477.3):c.-165G>A - PDHX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.44G>A r.(?) p.(Arg15His) - 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 - - - Mohammed Faruq
-/. 2 - c.63C>T r.(?) p.(Pro21=) - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.82C>T r.(?) p.(Leu28=) - VUS g.34938284C>T - PDHX(NM_003477.2):c.82C>T (p.L28=) - APIP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.171T>G r.(?) p.(Ile57Met) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.241+3G>A r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.299_301dup r.(?) p.(Val100_Thr101insIle) - VUS g.34969110_34969112dup g.34947563_34947565dup 1 more item - APIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 2 - c.301A>G r.(?) p.(Thr101Ala) - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.329T>C r.(?) p.(Leu110Ser) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.342+1G>T r.spl? p.? - VUS g.34969154G>T - PDHX(NM_003477.2):c.342+1G>T - APIP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.411T>C r.(?) p.(Asp137=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.474G>A r.(?) p.(Glu158=) - likely benign g.34979062G>A - PDHX(NM_003477.2):c.474G>A (p.E158=) - APIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.526A>G r.(?) p.(Ile176Val) - likely benign g.34979114A>G - PDHX(NM_003477.2):c.526A>G (p.I176V) - APIP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.566G>A r.(?) p.(Arg189His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.577G>C r.(?) p.(Glu193Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.640G>C r.(?) p.(Glu214Gln) - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - c.641+4T>C r.spl? p.? - benign g.34982069T>C g.34960522T>C - - PDHX_000015 194 heterozygous; Clinindb (India), 28 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2767035 Germline - 194/2746 individuals, 28/2746 individuals - - - Mohammed Faruq
+?/., ?/. 3 - c.644A>G r.(?) p.(Asp215Gly) - likely pathogenic, VUS g.34988189A>G g.34966642A>G - - PDHX_000011 - - - - Unknown - - - - - IMGAG
-?/., ?/. 3 - c.674C>T r.(?) p.(Thr225Met), p.Thr225Met ACMG likely benign, VUS g.34988219C>T g.34966672C>T PDHX(NM_003477.2):c.674C>T (p.T225M) - PDHX_000012 ACMG grading: BP4; probably not pathogenic, gnomAD MAF 0.0006, VKGL data sharing initiative Nederland, 1 more item - - rs148645836 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-?/. 1 - c.699A>G r.(?) p.(Pro233=) - likely benign g.34988244A>G - PDHX(NM_003477.2):c.699A>G (p.P233=) - APIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.749C>T r.(?) p.(Thr250Ile) - 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 - - - - - VKGL-NL_Groningen
-/. 2 - c.858T>C r.(?) p.(Val286=) - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.976G>C r.(?) p.(Val326Leu) - 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 - - - Mohammed Faruq
-/. 2 - c.1023+16C>G r.(=) p.(=) - benign g.34999745C>G g.34978198C>G PDHX(NM_003477.3):c.1023+16C>G - PDHX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 2 - c.1085A>C r.(?) p.Asp362Ala ACMG VUS g.35006178A>C g.34984631A>C - - PDHX_000013 ACMG grading: PM2,PP3, ACMG grading: PP3,PM2 - - - Germline - - - - - Andreas Laner
?/. 1 - c.1182+14_1182+17del r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1286C>G r.(?) p.(Thr429Ser) - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.1331G>A r.(?) p.(Arg444Lys) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1462A>G r.(?) p.(Lys488Glu) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1503C>T r.(?) p.(Ala501=) - likely benign g.35016716C>T - PDHX(NM_003477.2):c.1503C>T (p.A501=) - APIP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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