Genomic variant #0000116384

Individual ID 00073099
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.225577G>A
DNA change (hg38) g.225462G>A
Published as W119X
ISCN -
DB-ID SDHA_000007 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Herma Renkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHA NM_004168.2 +/? 4 c.356G>A r.(?) p.(Trp119*) 0.16 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073256 DNA;RNA DSCA;RT-PCR;SEQ - - SDHA 2 Herma Renkema