Genomic variant #0000116381

Individual ID 00072358
Chromosome 5
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.224572C>T
DNA change (hg38) g.224457C>T
Published as A83V
ISCN -
DB-ID SDHA_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Horvath
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     
SDHA NM_004168.2 ?/? 3 c.248C>T - r.(?) p.(Ala83Val) 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072515 DNA;RNA RT-PCR;SEQ - - SDHA 2 Jean-Pierre Bayley