Genomic variant #0000116703

Individual ID 00072862
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(161284216_161293403)_(161293461_161298185)del
DNA change (hg38) -
Published as exon 2 deletion
ISCN -
DB-ID SDHC_000034
Variant remarks LOH at SDHC locus; SDHB protein expression=0
Reference PubMed: Burnichon
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jean-Pierre Bayley




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHC NM_003001.3 ?/+ 1i_2i c.(220+1_221-1)_(77+1_78-1)del - r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073019 DNA PCRm;MLPA - - SDHC 1 Jean-Pierre Bayley