Variant #0000116418 (NC_000001.10:g.17375249_17390927del, SDHB(NM_003000.2):c.-10413_73-3866del)

Individual ID 00072364
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.17375249_17390927del
DNA change (hg38) g.17048754_17064432del
Published as deletion of SDHB exon 1 (16kb)
ISCN -
DB-ID SDHB_000131 See all 2 reported entries
Variant remarks 15680 bp del, incl. exon 1
Reference PubMed: Cascon
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-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.-10413_73-3866del r.? p.? - deletion, large



Screenings


AscendingScreening ID     

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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072521 DNA PCRm;RT-PCRq - - SDHB 1 Jean-Pierre Bayley