Variant #0000009255 (NC_000001.11:g.17053997G>A, SDHB(NM_003000.2):c.23C>T)

Individual ID 00001890
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.17053997G>A
Reference -
DB-ID SDHB_000005
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan - Consultorio Particular.
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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RNA change     

Review status     
SDHB NM_003000.2 ?/? 1 c.23C>T p.(Ser8Phe) Hetero no r.(23c>u) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002176 DNA SEQ-NG Genesia/Invitae Panel (36 genes) APC*, ATM*, AXIM2, BAP1. BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A(p14ARF), CDKN2A(p16INK4a), CHEK2, DICER1*, EPCAM*, FH*, FLCN, GREM1*, MET*, MITF*, MLH1*, MSH2*, MSH6*, MUTYH, NBN, NTHL1, PALB2, PMS2*, POLD1*, POLE, PTEN*, SDHB, SDHD, SMAD4, STK11, TP53, TSC1* 04-nov-2021 Multigenetic panel - 1 Pablo Kalfayan - Consultorio Particular.