Variant #0000647113 (NC_000005.9:g.223624C>T, SDHA(NM_004168.2):c.91C>T)

Individual ID 00289278
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
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 ACMG: PVS1, PM2, PM3, PP1 class 5
Reference -
ClinVar ID -
dbSNP ID rs142441643
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0002 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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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*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290448 DNA SEQ-NG-S - - - 2 Andreas Laner