Variant #0000007903 (NC_000022.11:g.29673378G>A, NF2(NM_000268.3):c.1232G>A)

Individual ID 00001394
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.29673378G>A
Reference -
DB-ID NF2_000002
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi-Hospital de Córdoba
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     

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Review status     
NF2 NM_000268.3 ?/? 12 c.1232G>A p.(Arg411His) Hetero no r.(?) -



Screenings


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Owner     
0000001643 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 - 1 Norma Rossi-Hospital de Córdoba