All transcript variants in gene NF2

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

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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.1079T>C p.(Leu360Pro) missense_variant - 11/16 probably_damaging(0.999) r.(?) deleterious(0) subst g.30067894T>C - 5.560 - NF2_000005 rs74315492 - ; clinvar; 4000972;8379998 - - LOVD
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