Variant #0000009753 (NC_000017.11:g.31226621A>T, NF1(NM_000267.3):c.2188A>T)

Individual ID 00002596
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.31226621A>T
Reference -
DB-ID NF1_000021
dbSNP ID rs758893131
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Sanatorio Allende
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


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NF1 NM_000267.3 ?/? 18 c.2188A>T p.(Asn730Tyr) Hetero no r.(2188a>u) -



Screenings


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Owner     
0000002895 DNA SEQ-NG;CNV Fundación para el Progreso de la Medicina Hereditary custom cancer panel (49 genes) APC,ATM,BAP1,BARD1,BLM,BMPR1A,BRCA1,BRCA2, BRIP1,BUB1B,CDC73,CDH1,CDKN1C,CEP57,CHEK2,DICER1,DIS3L2,EPCAM,FANCC,FH,FLCN,GPC3, HNF1A,MET,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PMS2,POLD1,POLE,PTEN,RAD50,RAD51C, RAD51D,SDHB,SDHC,SDHD,SMAD4,SMARCB1,STK11,TP53,TSC1,TSC2,VHL,WT1 12-04-23 Multigenetic panel - 2 Norma Rossi - Sanatorio Allende