Variant #0000116415 (NC_000001.10:g.17376556_17396932del, SDHB(NM_003000.2):c.-16418_73-5173del)

Individual ID 00072773
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17376556_17396932del
DNA change (hg38) g.17050061_17070437del
Published as exon 1 deletion (20kb)
ISCN -
DB-ID SDHB_000132
Variant remarks -
Reference PubMed: Cascon,PubMed: Cascon
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 +?/+ 1 c.-16418_73-5173del r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072930 DNA PCRm - - SDHB 1 Jean-Pierre Bayley