Genomic variant #0000116377

Individual ID 00073069
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.223624C>T
DNA change (hg38) g.223509C>T
Published as -
ISCN -
DB-ID SDHA_000013 See all 11 reported entries
Variant remarks relatively common mutation -prob. v. low penetrance
Reference PubMed: Korpershoek, PubMed: Pantaleo
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.3%
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Jean-Pierre Bayley




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 +?/+? 2 c.91C>T - r.(?) p.(Arg31*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073226 DNA SEQ - - SDHA 1 Jean-Pierre Bayley