Variant #0000128239 (NC_000001.10:g.17380462_17380513del, SDHB(NM_003000.2):c.8_59del)

Individual ID 00079468
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380462_17380513del
DNA change (hg38) g.17053967_17054018del
Published as Deletion of exon 1
ISCN -
DB-ID SDHB_000275 See all 2 reported entries
Variant remarks -
Reference PubMed: Buffet
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.8_59del r.(?) p.(Ala3Glufs*57) - frameshift



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079541 DNA SEQ - - SDHB 1 Jean-Pierre Bayley