Variant #0000128241 (NC_000001.10:g.17380473_17380498dup, SDHB(NM_003000.2):c.17_42dup)

Individual ID 00079404
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380473_17380498dup
DNA change (hg38) g.17053978_17054003dup
Published as c. 17_42dup26, c.17_42dup
ISCN -
DB-ID SDHB_000276 See all 2 reported entries
Variant remarks Variant Error [ESYNTAX]: This genomic variant has an error (char 36: expected EOF). Please fix this entry and then remove this message.
Reference PubMed: Jafri, PubMed: Miettinen
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 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.17_42dup r.(?) p.(Ala15Profs*4) - frameshift



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079477 DNA PCR; MLPA - - SDHB 1 Jean-Pierre Bayley