Variant #0000116430 (NC_000001.10:g.17380497G>T, SDHB(NM_003000.2):c.18C>A)

Individual ID 00072547
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.17380497G>T
DNA change (hg38) g.17054002G>T
Published as p.Ala6Ala
ISCN -
DB-ID SDHB_000008 See all 6 reported entries
Variant remarks -
Reference PubMed: Cascon, PubMed: McWhinney, PubMed: Morris, PubMed: Grau, PubMed: Brouwers, PubMed: Castellano, PubMed: Lima
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3.5%
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.97366 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.18C>A r.(=) p.(=) 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072704 DNA SEQ;SSCA - - SDHB 1 Jean-Pierre Bayley