Variant #0000116427 (NC_000001.10:g.17380507G>C, SDHB(NM_003000.2):c.8C>G)

Individual ID 00072901
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.17380507G>C
DNA change (hg38) g.17054012G>C
Published as -
ISCN -
DB-ID SDHB_000130 See all 2 reported entries
Variant remarks Allelic freq: controls 2/188; patients 1/646
Reference Burnichon - submitted
ClinVar ID -
dbSNP ID rs11203289
Origin Germline
Segregation -
Frequency 1.1%
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00301 View details
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 ?/-? 1 c.8C>G r.(?) p.(Ala3Gly) 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073058 DNA SEQ - - SDHB 1 Jean-Pierre Bayley