Variant #0000116441 (NC_000001.10:g.17380442C>T, SDHB(NM_003000.2):c.72+1G>A)

Individual ID 00072906
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380442C>T
DNA change (hg38) g.17053947C>T
Published as Splicesite
ISCN -
DB-ID SDHB_000171 See all 2 reported entries
Variant remarks -
Reference PubMed: Burnichon
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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 +?/+? 1i c.72+1G>A r.spl? p.(=) 0 splicing affected?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073063 DNA SEQ - - SDHB 1 Jean-Pierre Bayley