Genomic variant #0000116698

Individual ID 00072860
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.161284226_161284227dup
DNA change (hg38) g.161314436_161314437dup
Published as -
ISCN -
DB-ID SDHC_000032 See all 2 reported entries
Variant remarks Allelic freq controls 11/200; patients 63/420
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 c.20+11_20+12dup - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073017 DNA SEQ - - SDHC 1 Jean-Pierre Bayley