Variant #0000116434 (NC_000001.10:g.17380492G>A, SDHB(NM_003000.2):c.23C>T)

Individual ID 00072369
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380492G>A
DNA change (hg38) g.17053997G>A
Published as S8F
ISCN -
DB-ID SDHB_000059
Variant remarks poorly conserved aa, polymorphism?
Reference PubMed: Castellano
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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.23C>T r.(?) p.(Ser8Phe) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072526 DNA SEQ - - SDHB 1 Jean-Pierre Bayley