View genomic variant #0000006429

Individual ID 00001009
Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.17027802A>G
Reference -
DB-ID SDHB_000001 See all 2 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Norma Rossi-Hospital Privado Centro Médico de Córdoba




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
SDHB NM_003000.2 ?/? 5 c.487T>C p.(Ser163Pro) Hetero BRCA2 r.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001211 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 13-aug-2019 Multigenetic panel - 3 Norma Rossi-Hospital Privado Centro Médico de Córdoba