Variant #0000128211 (NC_000005.9:g.231038C>T, SDHA(NM_004168.2):c.818C>T)

Individual ID 00079376
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.231038C>T
DNA change (hg38) g.230923C>T
Published as p.(Thr273Ile)
ISCN -
DB-ID SDHA_000050 See all 2 reported entries
Variant remarks -
Reference PubMed: Belinsky, PubMed: Miettinen
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 ?/. 7 c.818C>T r.(?) p.(Thr273Ile) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079449 DNA SEQms - bisulfite sequencing SDHA 2 Jean-Pierre Bayley