Variant #0000116429 (NC_000001.10:g.17380482_17380500del, SDHB(NM_003000.2):c.17_35del)

Individual ID 00072900
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380482_17380500del
DNA change (hg38) g.17053987_17054005del
Published as p.Ala6GlyfsX65
ISCN -
DB-ID SDHB_000109 See all 3 reported entries
Variant remarks -
Reference PubMed: Burnichon
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.17_35del r.(?) p.(Ala6Glyfs*65) 0 frameshift



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073057 DNA SEQ - - SDHB 1 Jean-Pierre Bayley