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.185T>C p.(Phe62Ser) missense_variant - 2/16 probably_damaging(1) r.(?) deleterious(0) subst g.30032810T>C - 6.020 - NF2_000014 rs121434261 - ; clinvar; 8081368;12118253;8757035 - - LOVD
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