Variant #0000116743 (NC_000011.9:g.111948804_111959139del, SDHD(NM_003002.2):c.-8828_169+442del)

Individual ID 00072928
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111948804_111959139del
DNA change (hg38) g.112078080_112088415del
Published as Deletion Exon 1 & 2
ISCN -
DB-ID SDHD_000121 See all 5 reported entries
Variant remarks Deletion also affects entire TIMM8B gene
Reference PubMed: Bayley
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 +/+ _1_2i c.-8828_169+442del r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073085 DNA MLPA - - SDHD 1 Jean-Pierre Bayley