Variant #0000788619 (NC_000001.10:g.(?_17345217)_(17355232_17359554)del, SDHB(NM_003000.2):c.(286+1_287-1)_*159{0})

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method other
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_17345217)_(17355232_17359554)del
DNA change (hg38) -
Published as deletion of exons 4 to 8, c.(286+1_287-1)_(*159_?)del
ISCN -
DB-ID SDHB_000335
Variant remarks Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
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 +/+ 3i_8_ c.(286+1_287-1)_*159{0} r.? p.? - deletion, large