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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Predicted     

RNA change     

Predict-BioInf     

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.158C>T p.(Pro53Leu) missense r.(?) SIFT 0.01; MT 778; AGVGD 97.78 Parent #1 - VUS g.111958686C>T g.112087962C>T - - SDHD_000145 Conserved in fungi. Found 12 times in gnomAD. Medium Grantham score (98). VUS/likely pathogenic? PubMed: Lefebvre - - Unknown - - - - - DNA SEQ - - PGL - PubMed: Lefebvre - - - France - - - - - 1 Jean-Pierre Bayley
?/. - c.158C>T p.(Pro53Leu) - r.(?) - Unknown - VUS g.111958686C>T g.112087962C>T SDHD(NM_003002.4):c.158C>T (p.(Pro53Leu), p.P53L) - SDHD_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158C>T p.(Pro53Leu) - r.(?) - Unknown - VUS g.111958686C>T - SDHD(NM_003002.4):c.158C>T (p.(Pro53Leu), p.P53L) - SDHD_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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