All variants in the SDHA gene

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_004168.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
+?/+? 2 c.91C>T r.(?) p.(Arg31*) - - - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance PubMed: Korpershoek, PubMed: Pantaleo - - Germline - 0.3% - 0 - Jean-Pierre Bayley
+?/+? 2 c.91C>T r.(?) p.(Arg31*) 0 - - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - PubMed: Pantaleo - - Somatic - - - 0 - Jean-Pierre Bayley
?/? 2 c.91C>T r.91c>u p.(Arg31*) - - - VUS g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance - - - Unknown - 0.3% - 0 - Herma Renkema
+?/. 2 c.91C>T r.(?) p.(Arg31*) - - - likely pathogenic g.223624C>T g.223509C>T c.[91C>T]; [=] - SDHA_000013 - PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 2 c.91C>T r.(?) p.(Arg31*) - - - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 SDHB IHC Neg, SDHA IHC Neg. Carney Triad PubMed: Boikos - - Unknown ? - - 0 - Jean-Pierre Bayley
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.91C>T r.(?) p.(Arg31*) - nonsense - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - James Whitworth
+/. - c.91C>T r.(?) p.(Arg31*) - nonsense - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - James Whitworth
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.91C>T r.(?) p.(Arg31*) - - ACMG pathogenic g.223624C>T g.223509C>T - - SDHA_000013 ACMG: PVS1, PM2, PM3, PP1 class 5 - - rs142441643 Germline - - - 0 - Andreas Laner
+/. - c.91C>T r.(?) p.(Arg31*) - - - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - rs142441643 Germline - - - 0 - Andreas Laner
Legend   How to query