Variant #0000116379 (NC_000005.9:g.223624C>T, SDHA(NM_004168.2):c.91C>T)

Individual ID 00073096
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.223624C>T
DNA change (hg38) g.223509C>T
Published as -
ISCN -
DB-ID SDHA_000013 See all 13 reported entries
Variant remarks relatively common mutation -prob. v. low penetrance
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 0.3%
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0002 View details
Owner Herma Renkema
Database submission license No license selected
Created by Herma Renkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 ?/? 2 c.91C>T r.91c>u p.(Arg31*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073253 DNA;RNA DSCA;RT-PCR;SEQ - - SDHA 2 Herma Renkema