Full data view for gene DHODH

Information The variants shown are described using the NM_001361.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
Legend   How to query  

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.19A>C r.(?) p.(Lys7Gln) Unknown - benign g.72042682A>C g.72008783A>C DHODH(NM_001361.5):c.19A>C (p.K7Q) - DHODH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103C>T r.(?) p.(Arg35Cys) Unknown - likely benign g.72046030C>T - DHODH(NM_001361.4):c.103C>T (p.(Arg35Cys)) - DHODH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.192G>A r.(?) p.(=) Unknown - VUS g.72046119G>A - DHODH(NM_001361.5):c.192G>A (p.(Leu64=)) - DHODH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.248_261del r.(?) p.(Leu83ProfsTer11) Unknown - likely pathogenic g.72048385_72048398del g.72014486_72014499del DHODH(NM_001361.4):c.248_261del (p.(Leu83Profs*11)), DHODH(NM_001361.4):c.248_261delTGGGCCATAAATTC (p.L83Pfs*11) - DHODH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248_261del r.(?) p.(Leu83ProfsTer11) Unknown - VUS g.72048385_72048398del g.72014486_72014499del DHODH(NM_001361.4):c.248_261del (p.(Leu83Profs*11)), DHODH(NM_001361.4):c.248_261delTGGGCCATAAATTC (p.L83Pfs*11) - DHODH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322T>C r.(?) p.(Tyr108His) Unknown - VUS g.72048459T>C - DHODH(NM_001361.5):c.322T>C (p.(Tyr108His)) - DHODH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135Cys) Unknown - pathogenic g.72048540C>T - DHODH(NM_001361.4):c.403C>T (p.(Arg135Cys)) - DHODH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135Cys) Unknown - pathogenic g.72048540C>T g.72014641C>T - - DHODH_000016 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.406C>T r.(?) p.(Leu136Phe) Unknown - VUS g.72048543C>T g.72014644C>T DHODH(NM_001361.4):c.406C>T (p.(Leu136Phe)) - DHODH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - likely benign g.72050970G>A g.72017071G>A DHODH(NM_001361.4):c.482G>A (p.(Arg161Gln)) - DHODH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568G>A r.(?) p.(Ala190Thr) Unknown - VUS g.72055073G>A - DHODH(NM_001361.5):c.568G>A (p.(Ala190Thr)) - DHODH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583G>A r.(?) p.(Ala195Thr) Unknown - likely benign g.72055088G>A g.72021189G>A DHODH(NM_001361.4):c.583G>A (p.(Ala195Thr)) - DHODH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.605G>A r.(?) p.(Gly202Asp) Unknown - pathogenic g.72055110G>A - DHODH(NM_001361.5):c.605G>A (p.(Gly202Asp)) - DHODH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.605G>A r.(?) p.(Gly202Asp) Unknown ACMG likely pathogenic g.72055110G>A g.72021211G>A - - DHODH_000021 ACMG PP3, PM2, PM5, PP5; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat16 PubMed: Horbacz 2025 patient, affected F - Poland - - - - - 1 Johan den Dunnen
?/. - c.610C>G r.(?) p.(Leu204Val) Unknown - VUS g.72055115C>G - DHODH(NM_001361.5):c.610C>G (p.(Leu204Val)) - DHODH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>T r.(?) p.(Ala227=) Unknown - likely benign g.72055186C>T - DHODH(NM_001361.4):c.681C>T (p.A227=) - DHODH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Asp277Asn) Unknown - VUS g.72057073G>A - DHODH(NM_001361.5):c.829G>A (p.(Asp277Asn)) - DHODH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.890G>A r.(?) p.(Arg297His) Unknown - VUS g.72057134G>A g.72023235G>A DHODH(NM_001361.4):c.890G>A (p.R297H, p.(Arg297His)) - DHODH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.890G>A r.(?) p.(Arg297His) Unknown - likely benign g.72057134G>A g.72023235G>A DHODH(NM_001361.4):c.890G>A (p.R297H, p.(Arg297His)) - DHODH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949C>T r.(?) p.(Arg317Trp) Unknown - VUS g.72057193C>T - DHODH(NM_001361.4):c.949C>T (p.(Arg317Trp)) - DHODH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.949C>T r.(?) p.(Arg317Trp) Unknown - likely pathogenic g.72057193C>T g.72023294C>T - - DHODH_000014 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.994G>A r.(?) p.(Val332Ile) Unknown - VUS g.72057393G>A g.72023494G>A DHODH(NM_001361.4):c.994G>A (p.(Val332Ile)) - DHODH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009A>T r.(?) p.(Ser337Cys) Unknown - VUS g.72057408A>T - DHODH(NM_001361.4):c.1009A>T (p.(Ser337Cys)) - DHODH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1022C>T r.(?) p.(Ala341Val) Unknown - likely benign g.72057421C>T g.72023522C>T DHODH(NM_001361.4):c.1022C>T (p.(Ala341Val), p.A341V) - DHODH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1022C>T r.(?) p.(Ala341Val) Unknown - likely benign g.72057421C>T g.72023522C>T DHODH(NM_001361.4):c.1022C>T (p.(Ala341Val), p.A341V) - DHODH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1141G>A r.(?) p.(Gly381Ser) Unknown ACMG likely pathogenic g.72058051G>A g.72024152G>A - - DHODH_000023 ACMG PP3, PM2; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat60 PubMed: Horbacz 2025 patient, affected F - Poland - - - - - 1 Johan den Dunnen
?/. - c.1181G>A r.(?) p.(Arg394Gln) Unknown - VUS g.72058091G>A g.72024192G>A DHODH(NM_001361.4):c.1181G>A (p.(Arg394Gln)) - DHODH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*252C>T r.(=) p.(=) Parent #1 - VUS g.72058350C>T g.72024451C>T - - DHODH_000011 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147792232 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.