Variant #0000116796 (NC_000011.9:g.111959590G>T, SDHD(NM_003002.2):c.170-1G>T)

Individual ID 00072497
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.111959590G>T
DNA change (hg38) g.112088866G>T
Published as c.IVS2-1G>T Aberrant splicing?
ISCN -
DB-ID SDHD_000031
Variant remarks -
Reference PubMed: Dannenberg, PubMed: Renard, PubMed: Bauters, PubMed: Astrom, PubMed: Benn, PubMed: Mannelli, PubMed: Persu, PubMed: Ghayee
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 ?/+ 2i c.170-1G>T r.spl p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072654 DNA ;RNA SEQ - - SDHD 1 Jean-Pierre Bayley