Genomic variant #0000128294

Individual ID 00079425
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161326605A>G
DNA change (hg38) g.161356815A>G
Published as c.[380A>G];[=]
ISCN -
DB-ID SDHC_000055
Variant remarks VUS
Reference PubMed: Miettinen, PubMed: Rattenberry, PubMed: Dénes, PubMed: Gill
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     
SDHC NM_003001.3 ?/. 5 c.380A>G likely pathogenic r.(?) p.(His127Arg) 0.00 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079498 DNA SEQ; SEQ-NG - - SDHC 1 Jean-Pierre Bayley