Genomic variant #0000116705

Individual ID 00072463
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.161293422C>A
DNA change (hg38) g.161323632C>A
Published as 39 C/A, C13X
ISCN -
DB-ID SDHC_000007
Variant remarks -
Reference PubMed: Schiavi, PubMed: Neumann
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 ?/+ 2 c.39C>A - r.(?) p.(Cys13*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072620 DNA DHPLC;SEQ;SSCA - - SDHC 1 Jean-Pierre Bayley