View genomic variant #0000007742

Individual ID 00001323
Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.17018925T>C
Reference -
DB-ID SDHB_000004
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jesica Ramirez-Hospital Central de Mendoza




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
SDHB NM_003000.2 ?/? 8 c.799A>G p.(Lys267Glu) Hetero no r.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001562 DNA CNV;SEQ-NG Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) 11-jul-2019 Multigenetic panel - 1 Jesica Ramirez-Hospital Central de Mendoza