Genomic variant #0000128283

Individual ID 00079412
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.161284203C>T
DNA change (hg38) g.161314413C>T
Published as -
ISCN -
DB-ID SDHC_000064
Variant remarks -
Reference PubMed: Lefebvre
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
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 ?/. 1 c.8C>T VUS r.(?) p.(Ala3Val) 0.03 missense



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079485 DNA SEQ - - SDHC 1 Jean-Pierre Bayley