Variant #0000788271 (NC_000001.10:g.17380437_17380441del, SDHB(NM_003000.2):c.72+2_72+6del)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method other
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380437_17380441del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SDHB_000321
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 +?/+? 1i c.72+2_72+6del r.(spl?) p.(?) - splicing affected?