Genomic variant #0000116714

Individual ID 00072826
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.161298256C>T
DNA change (hg38) g.161328466C>T
Published as -
ISCN -
DB-ID SDHC_000024 See all 2 reported entries
Variant remarks -
Reference PubMed: Neumann
ClinVar ID -
dbSNP ID -
Origin Germline
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 +/? 3 c.148C>T likely pathogenic r.(?) p.(Arg50Cys) 0.00 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072983 DNA SEQ - - SDHC 1 Jean-Pierre Bayley