Transcript #00014502 (NM_000267.3, NF1 gene)

Transcript name transcript variant 2
Gene name NF1 (neurofibromin 1)
Chromosome 17
Transcript - NCBI ID NM_000267.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000258.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

7690 entries on 77 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     
+/+ _1_1i c.-12763_60+3074del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.-12290_60+5397del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.-1614_60+1946del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.-1614_60+3419del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.-1486_60+3546del r.0? p.0? deletion, large deletion, large -
+/+ _1_1 c.-915_-262del r.0? p.0? - - -
+/+ - c.-718_8375del r.0? p.0? deletion, large deletion, large -
?/? 1 c.-272G>A r.(?) p.(=) substitution other/complex -
?/? 1 c.-272G>A r.(?) p.(=) substitution other/complex -
?/? 1 c.-272G>C r.(?) p.(=) substitution other/complex -
-/. - c.-205_-204insT r.(?) p.(=) - - -
+?/. _1_58_ c.(?_-50)_(*68_?)del r.0? p.0? deletion deletion, large -
?/? 1 c.-27C>T r.(?) p.0? - - -
?/? 1 c.-27C>T r.(?) p.0? substitution splicing affected -
?/. - c.-27C>T r.(?) p.(=) - - -
-/- 1 c.-22G>C r.(?) p.0? substitution - -
-/. - c.-22G>C r.(?) p.(=) - - -
+/+ _1_1i c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large -
+/+ _1_1i c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large -
+/+ _1_29i c.(?_-1)_(3974+1_3975-1)del r.0? p.0? deletion, large deletion, large -
+/+ _1_35i c.(?_-1)_(4661+1_4662-1)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large -
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