Genomic variant #0000128215

Individual ID 00079456
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.233619C>T
DNA change (hg38) g.233504C>T
Published as c.[923C>T];[=]
ISCN -
DB-ID SDHA_000052
Variant remarks VUS
Reference PubMed: Rattenberry
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 ?/. 8 c.923C>T - r.(?) p.(Thr308Met) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079529 DNA SEQ-NG - - SDHA 1 Jean-Pierre Bayley