Variant #0000116764 (NC_000011.9:g.111957685T>G, SDHD(NM_003002.2):c.52+2T>G)

Individual ID 00072477
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111957685T>G
DNA change (hg38) g.112086961T>G
Published as c.IVS1+2T>G
ISCN -
DB-ID SDHD_000010
Variant remarks 0/78 controls/ Abberant splicing?
Reference PubMed: Gimm, PubMed: Neumann, PubMed: Neumann
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 ?/+? 1i c.52+2T>G r.spl p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072634 DNA SSCA;SEQ - - SDHD 1 Jean-Pierre Bayley