View all transcript variants in gene NF2

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.1604T>C p.(Leu535Pro) missense_variant - 15/16 probably_damaging(0.992) r.(?) deleterious(0) 22 Unknown subst g.30077457T>C - 6.030 - NF2_000010 MSCV_0000914 rs74315493 - ; clinvar; 7666400 - - -
./. c.1604T>C p.(Leu535Pro) - - - - r.(?) - 22 Unknown - g.30077457T>C - - - NF2_000010 MSCV_0000914 - - ; clinvar; - - - -
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