Variant #0000595712 (NC_000005.9:g.223624C>T, SDHA(NM_004168.2):c.91C>T)

Individual ID 00264004
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
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 -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0002 View details
Owner James Whitworth
Database submission license No license selected
Created by James Whitworth
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265134 DNA SEQ-NG-I - - SDHA 1 James Whitworth