Full data view for gene SDHD

Leiden University Medical Center SDHD gene variant database
Information The variants shown are described using the NM_003002.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Predicted     

Predict/MutationTaster     

Predict/AGVGD     

Predict/SIFT     

RNA change     

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     
?/- 3 c.204C>T p.(=) silent - - - r.(?) Parent #1 - likely benign g.111959625C>T g.112088901C>T p.Ser68Ser, g.7802 C->T (S68S), AGC - >AGT, - SDHD_000034 - PubMed: Taschner, PubMed: Cascon, PubMed: Cascon, PubMed: Hui, PubMed: Masuoka, PubMed: Dannenberg, PubMed: Aguiar, PubMed: Bauters, PubMed: Lima - - Germline - 2.8 - 4.4% - - - DNA SEQ, SSCA - - Healthy/Control - - - - - - - - - - - 10 Jean-Pierre Bayley
-/. - c.204C>T p.(Ser68=) - - - - r.(?) Unknown - benign g.111959625C>T g.112088901C>T SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=) - SDHD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204C>T p.(Ser68=) - - - - r.(?) Unknown - benign g.111959625C>T g.112088901C>T SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=) - SDHD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204C>T p.(Ser68=) - - - - r.(?) Unknown - benign g.111959625C>T g.112088901C>T SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=) - SDHD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204C>T p.(Ser68=) - - - - r.(?) Unknown - benign g.111959625C>T - SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=) - SDHD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204C>T p.(Ser68=) - - - - r.(?) Unknown - benign g.111959625C>T - SDHD(NM_001276504.1):c.87C>T (p.(=)), SDHD(NM_001276506.2):c.204C>T (p.S68=), SDHD(NM_003002.4):c.204C>T (p.S68=) - SDHD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204C>T p.(Ser68=) - - - - r.(?) Unknown - benign g.111959625C>T - - - SDHD_000034 - - - rs9919552 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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