Genomic variant #0000116734

Individual ID 00072563
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.161326631G>T
DNA change (hg38) g.161356841G>T
Published as (IVS5), G->T+1 Intron 5, 405+1 G/T
ISCN -
DB-ID SDHC_000002 See all 2 reported entries
Variant remarks aberrant splicing
Reference PubMed: Niemann, PubMed: Schiavi
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 ?/+? 5i c.405+1G>T - r.spl? p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072720 DNA SEQ - - SDHC 1 Jean-Pierre Bayley