Variant #0000116775 (NC_000011.9:g.111958640C>T, SDHD(NM_003002.2):c.112C>T)

Individual ID 00072484
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.111958640C>T
DNA change (hg38) g.112087916C>T
Published as CGA ->TGA Arg38->Stop, C.112 C>T (R38X), C112T Codon 38, Arg to Stop
ISCN -
DB-ID SDHD_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Baysal, PubMed: Baysal, PubMed: Neumann, PubMed: Neumann, PubMed: Gimm, PubMed: Fish, PubMed: Lodish
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.112C>T r.(?) p.(Arg38*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072641 DNA SEQ;SSCA - - SDHD 1 Jean-Pierre Bayley