View genomic variant #0000007900

Individual ID 00001392
Chromosome 1
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.17027802A>G
Reference Reclassified November 2020
DB-ID SDHB_000001 See all 2 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Claudia Martin-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 no r.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001641 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (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) 17-apr-2020 Multigenetic panel - 2 Claudia Martin-Hospital Privado Centro Médico de Córdoba