Variant #0000116768 (NC_000011.9:g.111958583_111958584dup, SDHD(NM_003002.2):c.55_56dup)

Individual ID 00072554
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958583_111958584dup
DNA change (hg38) g.112087859_112087860dup
Published as g.6759 insC Frameshift after A18
ISCN -
DB-ID SDHD_000018
Variant remarks -
Reference PubMed: Taschner
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     
SDHD NM_003002.2 ?/+ 1 c.55_56dup r.(?) p.(Leu20Cysfs*67) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072711 DNA SEQ;SSCA - - SDHD 1 Jean-Pierre Bayley