Full data view for gene SDHA

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.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
+?/+? 2 c.91C>T r.(?) p.(Arg31*) - - Unknown - 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 - DNA SEQ - - PGL - - 5 isolated cases - - - Dutch - 0 - - 1 Jean-Pierre Bayley
+?/+? 2 c.91C>T r.(?) p.(Arg31*) 0 - Unknown - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - PubMed: Pantaleo - - Somatic - - - 0 - DNA SEQ - - cancer - - 1 isolated case - - Italy - - 0 - - 1 Jean-Pierre Bayley
?/? 2 c.91C>T r.91c>u p.(Arg31*) - - Maternal (confirmed) - VUS g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance - - - Unknown - 0.3% - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - LS - - - - - - - - 0 - - 1 Herma Renkema
+?/. 2 c.91C>T r.(?) p.(Arg31*) - - Parent #1 - likely pathogenic g.223624C>T g.223509C>T c.[91C>T]; [=] - SDHA_000013 - PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 2 Jean-Pierre Bayley
+?/+? 2 c.91C>T r.(?) p.(Arg31*) - - Unknown - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 SDHB IHC Neg, SDHA IHC Neg. Carney Triad PubMed: Boikos - - Unknown ? - - 0 - DNA SEQ - - Carney complex variant - PubMed: Boikos Carney triad = paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas M ? United States - - 0 - - 1 Jean-Pierre Bayley
+/. - c.91C>T r.(?) p.(Arg31Ter) - - Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T r.(?) p.(Arg31Ter) - - Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T r.(?) p.(Arg31Ter) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T r.(?) p.(Arg31*) - nonsense Unknown - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MINAS - - - F - - - - 0 - - 1 James Whitworth
+/. - c.91C>T r.(?) p.(Arg31*) - nonsense Unknown - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MINAS - - - M - - - - 0 - - 1 James Whitworth
+/. - c.91C>T r.(?) p.(Arg31Ter) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T r.(?) p.(Arg31*) - - Unknown ACMG pathogenic g.223624C>T g.223509C>T - - SDHA_000013 ACMG: PVS1, PM2, PM3, PP1 class 5 - - rs142441643 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.91C>T r.(?) p.(Arg31*) - - Unknown - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - rs142441643 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
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