Variant #0000595662 (NC_000001.10:g.17380494del, SDHB(NM_003000.2):c.21del)

Individual ID 00263966
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380494del
DNA change (hg38) g.17053999del
Published as -
ISCN -
DB-ID SDHB_000010 See all 2 reported entries
Variant remarks ACMG grading: PVS1,PM2; reported in Neumann 2004. JAMA 292: 943
Reference -
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 Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 +?/+ - c.21del r.(?) p.(Ser8Profs*2) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265079 DNA SEQ-NG-S - - - 1 Andreas Laner