Variant #0000116419 (NC_000001.10:g.(17371384_17380442)_(17380665_?)del, SDHB(NM_003000.2):c.(?_-151)_(72+1_73-1)del)

Individual ID 00072365
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(17371384_17380442)_(17380665_?)del
DNA change (hg38) -
Published as Deletion Exon 1 (1 kb?)
ISCN -
DB-ID SDHB_000007 See all 5 reported entries
Variant remarks 0/5 controls
Reference PubMed: Amar, PubMed: McWhinney
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.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072522 DNA SEQ;PCRsqd - - SDHB 1 Jean-Pierre Bayley