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     

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     
?/+ 1 c.3G>C p.(Met1?) - - - - r.(?) Parent #1 - pathogenic g.111957634G>C g.112086910G>C G to C (Met1Ile), 3G>C/M1I, M1I - SDHD_000015 - PubMed: Badenhop, PubMed: Lee, PubMed: Badenhop, PubMed: Ma, PubMed: Zha, PubMed: Wang - - Germline - - - - - DNA SEQ - - PGL - - OMIM602690:0015; 7 families 17 affected - - China - - - - - 6 Jean-Pierre Bayley
+/? 1 c.3G>C p.(Met1?) - - - - r.(?) Unknown - pathogenic g.111957634G>C g.112086910G>C - - SDHD_000015 - - - - Unknown - - - - - DNA SEQ - - PGL - - - - - China - - - - - 3 Yang Zha
+/+ 1 c.3G>C p.(Met1?) nonsense - - - r.(?) Paternal (confirmed) - pathogenic g.111957634G>C g.112086910G>C Met1lle - SDHD_000015 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat220 Journal: Heesterman 2018 - F - Netherlands - - - - - 1 Berdine Heesterman
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