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.

5 entries on 1 page. Showing entries 1 - 5.
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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_2i c.-8828_169+442del p.? deletion, large - - - r.? Unknown - pathogenic g.111948804_111959139del g.112078080_112088415del Deletion Exon 1 & 2 - SDHD_000121 Deletion also affects entire TIMM8B gene PubMed: Bayley - - Germline - - - - - DNA MLPA - - PGL - - 1 isolated case - - Netherlands - - - - - 1 Jean-Pierre Bayley
+/+ _1_2i c.-8828_169+442del p.0? - - - - r.0? Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat206 Journal: Heesterman 2018 - M - Netherlands - - - - - 1 Berdine Heesterman
+/+ _1_2i c.-8828_169+442del p.0? - - - - r.0? Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat207 Journal: Heesterman 2018 - M - Netherlands - - - - - 1 Berdine Heesterman
+/+ _1_2i c.-8828_169+442del p.0? - - - - r.0? Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat208 Journal: Heesterman 2018 - M - Netherlands - - - - - 1 Berdine Heesterman
+/+ _1_2i c.-8828_169+442del p.0? - - - - r.0? Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat209 Journal: Heesterman 2018 - F - Netherlands - - - - - 1 Berdine Heesterman
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