All variants in the HADH gene

Information The variants shown are described using the NM_005327.4 transcript reference sequence.

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

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     
-?/. - c.-71C>T r.(=) p.(=) - likely benign g.108911018C>T g.107989862C>T - - HADH_000008 91 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs760202 Germline - 91/2793 individuals - 0 - Mohammed Faruq
-?/. - c.-71C>T r.(=) p.(=) - likely benign g.108911018C>T g.107989862C>T - - HADH_000008 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs760202 Germline - 2/2793 individuals - 0 - Mohammed Faruq
+/. - c.133-4860G>A r.(=) p.(=) - pathogenic g.108926055G>A - HADH(NM_001331027.1):c.126G>A (p.W42*) - HADH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.199A>T r.(?) p.(Lys67Ter) - pathogenic g.108930981A>T - HADH(NM_001184705.2):c.199A>T (p.K67*) - HADH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.257= r.(=) p.(Pro86=) - benign g.108931039T>C g.108009883T>C HADH(NM_001184705.4):c.257T>C (p.L86P) - HADH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.274T>A r.(?) p.(Phe92Ile) - VUS g.108935599T>A g.108014443T>A HADH(NM_001184705.2):c.274T>A (p.F92I) - HADH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.349G>T r.(?) p.(Val117Leu) - pathogenic g.108935674G>T g.108014518G>T NM_001184705: c.G349T; p.V117L - HADH_000001 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.643C>A r.(?) p.(Pro215Thr) - VUS g.108948850C>A g.108027694C>A - - HADH_000009 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140413151 Germline - 4/2795 individuals - 0 - Mohammed Faruq
?/. - c.676T>C r.(?) p.(Tyr226His) - VUS g.108948883T>C g.108027727T>C - - HADH_000010 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146036912 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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