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.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
?/+? 2_2i c.169_169+9del p.? splicing affected? - - - r.spl Parent #1 - likely pathogenic g.111958697_111958706del g.112087973_112087982del delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing? - SDHD_000074 deletion of last nucleotide of exon 2 and splice donor site of intron 2 - splicing defect? DBSubm001 - - Germline - - - - - DNA SEQ - - PGL - - - - - Netherlands Hindu - - - - 1 Janneke Weiss
+?/+? 2_2i c.169_169+9del p.? - - - - r.spl Unknown - likely pathogenic g.111958697_111958706del g.112087973_112087982del delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing? - SDHD_000074 - - - - Unknown - - - - - DNA SEQ - - ? - - noradrenaline producerend abdominaal PGL (31 jr) - - Netherlands - - - - - 1 Janneke Weiss
+?/+? 2_2i c.169_169+9del p.? - - - - r.spl Paternal (confirmed) - likely pathogenic g.111958697_111958706del g.112087973_112087982del 169_169+9 del TGTATGTTCT - SDHD_000074 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat210 Journal: Heesterman 2018 - F - Netherlands - - - - - 1 Berdine Heesterman
+?/+? 2_2i c.169_169+9del p.? - - - - r.spl Paternal (confirmed) - likely pathogenic g.111958697_111958706del g.112087973_112087982del 169_169+9 del TGTATGTTCT - SDHD_000074 - Journal: Heesterman 2018 - - Germline - - - - - DNA SEQ - - PGL1 EJHG-Pat211 Journal: Heesterman 2018 - F - Netherlands - - - - - 1 Berdine Heesterman
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.