Variant #0000128242 (NC_000001.10:g.17380445G>A, SDHB(NM_003000.2):c.70C>T)

Individual ID 00079416
Chromosome 1
Allele Parent #1
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.17380445G>A
DNA change (hg38) g.17053950G>A
Published as -
ISCN -
DB-ID SDHB_000274 See all 2 reported entries
Variant remarks -
Reference PubMed: Lefebvre
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
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 4.0 InternationalCreative Commons License
Created by Julia Lopez
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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.70C>T r.(?) p.(Gln24*) - nonsense



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079489 DNA SEQ - - SDHB 1 Jean-Pierre Bayley