Variant #0000008060 (NC_000017.11:g.31340512C>T, NF1(NM_000267.3):c.6866C>T)

Individual ID 00001441
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.31340512C>T
Reference -
DB-ID NF1_000008
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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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Review status     
NF1 NM_000267.3 ?/-? 46 c.6866C>T p.(Pro2289Leu) Hetero no r.(?) RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001695 DNA CNV;SEQ-NG Héritas Panel (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NF1, MLH1, MSH2, MSH6, PMS2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, EPCAM) 5-apr-2019 Multigenetic panel - 5 Laura Vargas Roig-IMBECU