Genomic variant #0000128197

Individual ID 00079420
Chromosome 5
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.223650del
DNA change (hg38) g.223535del
Published as c.G117G/del in exon 2
ISCN -
DB-ID SDHA_000060
Variant remarks compound heterozygous in patient
Reference PubMed: Ma
ClinVar ID -
dbSNP ID -
Origin Unknown
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 ?/. 2 c.117del - r.(?) p.(Asn40Thrfs*18) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079493 DNA SEQ - - SDHA 2 Jean-Pierre Bayley