Variant #0000116412 (NC_000001.10:g.17380712C>T, SDHB(NM_003000.2):c.-198G>A)

Individual ID 00072905
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380712C>T
DNA change (hg38) g.17054217C>T
Published as 5’ UTR
ISCN -
DB-ID SDHB_000192
Variant remarks Allelic freq: controls 1/188; patients 1/646
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.-198G>A r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073062 DNA SEQ - - SDHB 1 Jean-Pierre Bayley