Variant #0000116792 (NC_000011.9:g.111958702G>A, SDHD(NM_003002.2):c.169+5G>A)

Individual ID 00072744
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.111958702G>A
DNA change (hg38) g.112087978G>A
Published as -
ISCN -
DB-ID SDHD_000084
Variant remarks France. Splicesite mutation? cDNA: SDHD exon 2 skipping
Reference PubMed: Timmers, PubMed: Burnichon
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 ?/+ 2i c.169+5G>A r.spl? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072901 DNA SEQ - - SDHD 1 Jean-Pierre Bayley