Full data view for gene SDHA

LUMC SDHA gene variant database
Information The variants shown are described using the NM_004168.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/. 5 c.549C>T r.(=) p.(=) - - Parent #1 - VUS g.226090C>T g.225975C>T c.[549C>T]; [=] - SDHA_000045 VUS PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
-/. - c.549C>T r.(?) p.(Gly183=) - - Unknown - benign g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.549C>T r.(?) p.(Gly183=) - - Unknown - benign g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.549C>T r.(?) p.(Gly183=) - - Unknown - benign g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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