Genomic variant #0000116376

Individual ID 00072357
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.218471A>C
DNA change (hg38) g.218356A>C
Published as A25 C
ISCN -
DB-ID SDHA_000001
Variant remarks -
Reference PubMed: Parfait
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site + BslI, -NlaIII
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Tonino Ercolino




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 ?/? 1 c.1A>C - r.? p.? 0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072514 DNA RT-PCR;SEQ - - SDHA 2 Tonino Ercolino