Genomic variant #0000116380

Individual ID 00072964
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.223646A>T
DNA change (hg38) g.223531A>T
Published as p.D38V
ISCN -
DB-ID SDHA_000009 See all 4 reported entries
Variant remarks -
Reference PubMed: Bonache
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 6.5%
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03283 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.113A>T - r.(?) p.(Asp38Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073121 DNA SEQ - - SDHA 1 Jean-Pierre Bayley