View transcript #00003146

Transcript name transcript variant 1
Gene name NF2 (neurofibromin 2 (merlin))
Chromosome 22
Transcript - NCBI ID NM_000268.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000259.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.185T>C p.(Phe62Ser) missense_variant - 2/16 probably_damaging(1) r.(?) deleterious(0)
?/? c.240+1G>T p.? splice_donor_variant - - - r.spl? -
+/+ c.286_288del p.(Phe96del) - - - - r.(?) -
+/+ c.544G>T p.(Glu182*) stop_gained - 6/16 - r.(?) -
+/+ c.784C>T p.(Arg262*) stop_gained - 8/16 - r.(?) -
+/+ c.958C>T p.(Gln320*) stop_gained - 10/16 - r.(?) -
?/? c.970C>T p.(Gln324*) stop_gained - 10/16 - r.(?) -
+/+ c.1021C>T p.(Arg341*) stop_gained - 11/16 - r.(?) -
+/+ c.1079T>C p.(Leu360Pro) missense_variant - 11/16 probably_damaging(0.999) r.(?) deleterious(0)
?/? c.1084C>T p.(Gln362*) stop_gained - 11/16 - r.(?) -
+/+ c.1219C>T p.(Gln407*) stop_gained - 12/16 - r.(?) -
+/+ c.1387G>A p.(Glu463Lys) missense_variant - 13/16 possibly_damaging(0.713) r.(?) tolerated(0.48)
+/+ c.1387G>T p.(Glu463*) stop_gained - 13/16 - r.(?) -
+/+ c.1396C>T p.(Arg466*) stop_gained - 13/16 - r.(?) -
+/+ c.1579G>T p.(Glu527*) stop_gained - 15/16 - r.(?) -
+/+ c.1604T>C p.(Leu535Pro) missense_variant - 15/16 probably_damaging(0.992) r.(?) deleterious(0)
+/+ c.1613A>C p.(Gln538Pro) missense_variant - 15/16 probably_damaging(0.982) r.(?) deleterious(0)
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