Variant #0000116781 (NC_000011.9:g.111958657G>A, SDHD(NM_003002.2):c.129G>A)

Individual ID 00072487
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.111958657G>A
DNA change (hg38) g.112087933G>A
Published as TGG -> TGA Trp43 -> Stop
ISCN -
DB-ID SDHD_000023
Variant remarks First case of Maternal Transmission? (France, Pigny et al),
Reference PubMed: Cascon, PubMed: Velasco, PubMed: Astrom, PubMed: Benn, PubMed: Timmers, PubMed: Pigny, PubMed: Galera-Ruiz, PubMed: Fakhry, PubMed: Ayala-Ramirez
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.129G>A r.(?) p.(Trp43*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072644 DNA SEQ - - SDHD 1 Jean-Pierre Bayley