Variant #0000116787 (NC_000011.9:g.111958696_111958697del, SDHD(NM_003002.2):c.168_169del)

Individual ID 00072492
Chromosome 11
Allele Parent #1
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.111958696_111958697del
DNA change (hg38) g.112087972_112087973del
Published as 170-171delTT
ISCN -
DB-ID SDHD_000054
Variant remarks -
Reference PubMed: Velasco, PubMed: Cascon
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 ?/+ 2 c.168_169del r.(?) p.(Ser57Trpfs*11) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072649 DNA SEQ;SSCA - - SDHD 1 Jean-Pierre Bayley