Variant #0000128243 (NC_000001.10:g.(17371384_17380442)_17383165del, SDHB(NM_003000.2):c.-2651_(72+1_73-1)del)

Individual ID 00079518
Chromosome 1
Allele Unknown
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.(17371384_17380442)_17383165del
DNA change (hg38) -
Published as 15678bp deletion in the SDHB gene, which encompasses the promoter and exon 1.
ISCN -
DB-ID SDHB_000245
Variant remarks -
Reference PubMed: Martins PubMed: Weber
ClinVar ID -
dbSNP ID -
Origin Germline
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 +?/+? 1 c.-2651_(72+1_73-1)del r.? p.? - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079591 DNA SEQ - - SDHB 1 Jean-Pierre Bayley