Variant #0000116431 (NC_000001.10:g.17380493_17380495delinsG, SDHB(NM_003000.2):c.20_22delinsC)

Individual ID 00072811
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380493_17380495delinsG
DNA change (hg38) g.17053998_17054000delinsG
Published as -
ISCN -
DB-ID SDHB_000191
Variant remarks -
Reference -
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 Yang Zha
Database submission license No license selected
Created by Yang Zha
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 +/+ 1 c.20_22delinsC r.(?) p.(Leu7Profs*55) 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072968 DNA SEQ - - SDHB 1 Yang Zha