Variant #0000116446 (NC_000001.10:g.17371494C>T, SDHB(NM_003000.2):c.73-111G>A)

Individual ID 00072372
Chromosome 1
Allele Parent #1
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.17371494C>T
DNA change (hg38) g.17044999C>T
Published as (IVS1)
ISCN -
DB-ID SDHB_000013
Variant remarks -
Reference PubMed: Benn, PubMed: Opocher, PubMed: Castellano
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 36%
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 ?/-? 1i c.73-111G>A r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072529 DNA SEQ - - SDHB 1 Jean-Pierre Bayley