Variant #0000006670 (NC_000009.12:g.132903822T>C, TSC1(NM_000368.4):c.2042-5A>G)

Individual ID 00001089
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.132903822T>C
Reference -
DB-ID TSC1_000003
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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     

Affects function     

Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
TSC1 NM_000368.4 ?/? 16i c.2042-5A>G p.? Hetero no r.spl? -



Screenings


AscendingScreening ID     

Template     

Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001301 DNA SEQ-NG CEMIC - 25-mar-2019 Multigenetic panel DICER1, FH, FLCN, MET, PTEN, TP53, TSC1, TSC2, VHL 10 Pablo Kalfayan-Hospital Italiano
0000001302 DNA SEQ-NG;CNV Dasa Genómica - Genia;Hospital Italiano de Buenos Aires Panel 30 genes (BAP1, BUB1B, CDC73, CDKN1C, CEP57, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, MET, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SDHB, SDHC, SDHD, SMARCA4, MARCB1, TP53, TSC1, TSC2, VHL, WT1, -MITF&SDHA NGS only-) 29-jul-2019 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano