Transcript #00001752

Transcript name transcript variant 1
Gene name NBEA (neurobeachin)
Chromosome 13
Transcript - NCBI ID NM_015678.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_056493.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.168C>T likely benign r.(?) p.(=)
-?/. - c.282G>A likely benign r.(?) p.(=)
-?/. - c.282G>A likely benign r.(?) p.(=)
-?/. - c.627+9T>C likely benign r.(=) p.(=)
-?/. - c.661A>T likely benign r.(?) p.(Asn221Tyr)
-?/. - c.2618T>C likely benign r.(?) p.(Ile873Thr)
-?/. - c.3141T>G likely benign r.(?) p.(=)
-?/. - c.3580G>A likely benign r.(?) p.(Val1194Ile)
+/. - c.3673_3674del pathogenic r.(?) p.(Leu1225Serfs*5)
+?/. - c.3832C>T likely pathogenic r.(?) p.(Arg1278*)
?/. - c.3994C>T VUS r.(?) p.(Pro1332Ser)
-?/. - c.4244C>T likely benign r.(?) p.(Thr1415Met)
-?/. - c.4988A>G likely benign r.(?) p.(Asp1663Gly)
-?/. - c.4996G>A likely benign r.(?) p.(Val1666Ile)
-?/. - c.5367-16C>T likely benign r.(=) p.(=)
-?/. - c.5839-3del likely benign r.spl? p.?
-?/. - c.5985G>A likely benign r.(?) p.(=)
-?/. - c.5991A>G likely benign r.(?) p.(=)
?/. - c.6449-4299_6449-4298insATTA - - p.(=)
+?/. - c.6829C>T likely pathogenic r.(?) p.(Arg2277*)
-/. - c.7039A>G benign r.(?) p.(Ile2347Val)
?/. - c.7462G>T VUS r.(?) p.(Glu2488*)
-?/. - c.7683G>A likely benign r.(?) p.(=)
-?/. - c.7704C>T likely benign r.(?) p.(=)
+?/. - c.7708del likely pathogenic r.(?) p.(Cys2570Valfs*18)
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