Variant #0000116765 (NC_000011.9:g.111931979_111959014del, SDHD(NM_003002.2):c.-25655_169+315del)

Individual ID 00072944
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111931979_111959014del
DNA change (hg38) g.112061255_112088290del
Published as Chromosome 11q deletion
ISCN -
DB-ID SDHD_000128
Variant remarks (27036 bp del) - breakpoints in MER2B and AluSx repeats
Reference PubMed: CadiƱanos
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
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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 +?/+? _1_2i c.-25655_169+315del r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073101 DNA MLPA;SEQ - - SDHD 1 Jean-Pierre Bayley