Variant #0000788257 (NC_000001.10:g.17380501A>C, SDHB(NM_003000.2):c.14T>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method other
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380501A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID SDHB_000317
Variant remarks Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR)
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-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.14T>G r.(?) p.(Val5Gly) - missense