Variant #0000148453 (NC_000001.10:g.17361036_17389084del, SDHB(NM_003000.2):c.-8570_201-1396del)

Individual ID 00090182
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.17361036_17389084del
DNA change (hg38) g.17034541_17062589del
Published as SDHB Del promoter + exon 1+2, 28199bp
ISCN -
DB-ID SDHB_000248
Variant remarks -
Reference PubMed: Hoekstra
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-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 +?/+? 1 c.-8570_201-1396del r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090327 DNA SEQ - - SDHB 1 Jean-Pierre Bayley