All variants in the NF2 gene

Information The variants shown are described using the NM_000268.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 7 c.614T>C p.(Met205Thr) Hetero no r.? - g.29658203T>C - NF2_000004 rs747871414 - Cecilia Montes-IMGO
?/? 10 c.947T>G p.(Leu316Trp) Hetero no r.? - g.29668394T>G - NF2_000006 rs750633919 - Guillermo Alberto-Instituto Fleming
?/? 13 c.1207G>A p.(Ala403Thr) Hetero no r.? - g.29673467G>A - NF2_000005 - - Guillermo Alberto-Instituto Fleming
?/? 12 c.1232G>A p.(Arg411His) Hetero no r.(?) - g.29673378G>A - NF2_000002 - - Norma Rossi-Hospital de Córdoba
?/? 14 c.1451T>C p.(Met484Thr) Hetero no r.(1451u>c) - g.29678200T>C - NF2_000003 - - Claudia Martin-Hospital de Córdoba
+/+ 15 c.1575_1737del p.(Lys525Asnfs*20) Hetero N/A r.(?) - g.29681439_29681601del - NF2_000001 - - Lina Nuñez-Private Practice
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