Variant #0000116780 (NC_000011.9:g.111958653A>C, SDHD(NM_003002.2):c.125A>C)

Individual ID 00072486
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958653A>C
DNA change (hg38) g.112087929A>C
Published as -
ISCN -
DB-ID SDHD_000033
Variant remarks not conserved, 0/150-200 controls, located near 2 known polymorphisms.
Reference PubMed: Cascon
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency > 1 %
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.125A>C r.(?) p.(Glu42Ala) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072643 DNA SEQ - - SDHD 1 Jean-Pierre Bayley