Variant #0000116410 (NC_000001.10:g.17380653C>A, SDHB(NM_003000.2):c.-139G>T)

Individual ID 00072740
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380653C>A
DNA change (hg38) g.17054158C>A
Published as '5 UTR
ISCN -
DB-ID SDHB_000119 See all 3 reported entries
Variant remarks located in '5 UTR, Allelic freq controls 1/188; patients 2/646
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 Janneke Weiss
Database submission license No license selected
Created by Janneke Weiss
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 -/-? 1 c.-139G>T r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072897 DNA SEQ - - SDHB 1 Janneke Weiss