Variant #0000128203 (NC_000005.9:g.225996_225998del, SDHA(NM_004168.2):c.457-2_457del)

Individual ID 00079377
Chromosome 5
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.225996_225998del
DNA change (hg38) g.225881_225883del
Published as c.457-3_457-1delCAG
ISCN -
DB-ID SDHA_000058
Variant remarks LOH
Reference PubMed: Belinsky, PubMed: Pantaleo
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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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 ?/. 4i_5 c.457-2_457del r.spl? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079450 DNA SEQms - bisulfite sequencing SDHA 1 Jean-Pierre Bayley