Transcript #00011803

Transcript name transcript variant 1
Gene name MAPT (microtubule-associated protein tau)
Chromosome 17
Transcript - NCBI ID NM_016835.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_058519.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

101 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-13A>G benign r.(=) p.(=)
-/. - c.-13A>G benign r.(=) p.(=)
-/. - c.-13A>G benign r.(=) p.(=)
?/. - c.121G>A VUS r.(?) p.(Ala41Thr)
-?/. - c.134-2537T>C likely benign r.(=) p.(=)
?/. - c.176C>T - r.(?) p.(Pro59Leu)
-/. - c.220+18C>T benign r.(=) p.(=)
-/. - c.220+18C>T benign r.(=) p.(=)
-/. - c.220+18C>T benign r.(=) p.(=)
-/. - c.221-8G>A benign r.(=) p.(=)
-?/. - c.258C>G likely benign r.(=) p.(=)
?/. - c.284C>T VUS r.(?) p.(Thr95Met)
-/. - c.307+9A>G benign r.(=) p.(=)
-/. - c.307+9A>G benign r.(=) p.(=)
-/. - c.307+9A>G benign r.(=) p.(=)
-/. - c.307+9A>G benign r.(=) p.(=)
-?/. - c.307+12C>G likely benign r.(=) p.(=)
-/. - c.605C>T benign r.(?) p.(Pro202Leu)
-/. - c.605C>T benign r.(?) p.(Pro202Leu)
-?/. - c.637G>A likely benign r.(?) p.(Gly213Arg)
-?/. - c.637G>A likely benign r.(?) p.(Gly213Arg)
-?/. - c.664C>A likely benign r.(?) p.(Arg222Ser)
?/. - c.671T>G - r.(?) p.(Val224Gly)
-?/. - c.671T>G likely benign r.(?) p.(Val224Gly)
-?/. - c.671T>G likely benign r.(?) p.(Val224Gly)
-?/. - c.687C>A likely benign r.(=) p.(=)
-/. - c.689A>G benign r.(?) p.(Gln230Arg)
-/. - c.689A>G benign r.(?) p.(Gln230Arg)
-/. - c.689A>G benign r.(?) p.(Gln230Arg)
-/. - c.853G>A benign r.(?) p.(Asp285Asn)
-/. - c.853G>A benign r.(?) p.(Asp285Asn)
-/. - c.855C>T benign r.(=) p.(=)
-/. - c.855C>T benign r.(=) p.(=)
-/. - c.866T>C benign r.(?) p.(Val289Ala)
-/. - c.866T>C benign r.(?) p.(Val289Ala)
+?/. - c.1070del likely pathogenic r.(?) p.(Lys357Serfs*48)
-?/. - c.1101C>T likely benign r.(=) p.(=)
-?/. - c.1126+21C>T likely benign r.(=) p.(=)
-/. - c.1321T>C benign r.(?) p.(Tyr441His)
-/. - c.1321T>C benign r.(?) p.(Tyr441His)
-/. - c.1321T>C benign r.(?) p.(Tyr441His)
-/. - c.1321T>C benign r.(?) p.(Tyr441His)
-/. - c.1339T>C benign r.(?) p.(Ser447Pro)
-/. - c.1339T>C benign r.(?) p.(Ser447Pro)
-/. - c.1339T>C benign r.(?) p.(Ser447Pro)
?/. - c.1405G>A - r.(?) p.(Ala469Thr)
?/. - c.1421C>A - r.(?) p.(Ala474Glu)
-/. - c.1479G>A benign r.(=) p.(=)
-/. - c.1479G>A benign r.(=) p.(=)
-/. - c.1479G>A benign r.(=) p.(=)
-/. - c.1479G>A benign r.(=) p.(=)
-/. - c.1483G>A benign r.(?) p.(Ala495Thr)
-/. - c.1507+2342T>C benign r.(=) p.(=)
-/. - c.1507+2342T>C benign r.(=) p.(=)
-/. - c.1507+2342T>C benign r.(=) p.(=)
?/. - c.1507+2367C>A VUS r.(=) p.(=)
-?/. - c.1508-31T>C likely benign r.(=) p.(=)
-/. - c.1508-26G>A benign r.(=) p.(=)
-?/. - c.1508-12C>T likely benign r.(=) p.(=)
?/. - c.1532G>A - r.(?) p.(Arg511His)
?/. - c.1603C>A - r.(?) p.(Pro535Thr)
-/. - c.1632A>G benign r.(=) p.(=)
-/. - c.1632A>G benign r.(=) p.(=)
-/. - c.1632A>G benign r.(=) p.(=)
-/. - c.1632A>G benign r.(=) p.(=)
?/. - c.1666G>A - r.(?) p.(Ala556Thr)
-?/. - c.1698C>A likely benign r.(=) p.(=)
-?/. - c.1713G>A likely benign r.(=) p.(=)
-/. - c.1716T>C benign r.(=) p.(=)
-/. - c.1716T>C benign r.(=) p.(=)
-/. - c.1716T>C benign r.(=) p.(=)
-/. - c.1716T>C benign r.(=) p.(=)
-?/. - c.1731C>T likely benign r.(=) p.(=)
-/. - c.1761G>A benign r.(=) p.(=)
-/. - c.1761G>A benign r.(=) p.(=)
-/. - c.1761G>A benign r.(=) p.(=)
-/. - c.1761G>A benign r.(=) p.(=)
+/. - c.1766G>T pathogenic r.(?) p.(Gly589Val)
-?/. - c.1773+41G>A likely benign r.(=) p.(=)
-?/. - c.1809C>T likely benign r.(=) p.(=)
?/. - c.1837A>G VUS r.(?) p.(Asn613Asp)
+/. - c.1839T>C pathogenic r.(=) p.(=)
+/. 10 c.1843A>G - r.1774_1866del p.Ile595_Ile625del
+/. - c.1852C>T pathogenic r.(?) p.(Pro618Ser)
+/. - c.1853C>T pathogenic r.(?) p.(Pro618Leu)
?/. - c.1861G>A - r.(?) p.(Gly621Ser)
+?/. - c.1866+14C>A - r.spl? p.(?)
+/. - c.1866+16C>T pathogenic r.(=) p.(=)
-/. - c.1866+28C>T benign r.(=) p.(=)
-?/. - c.1866+29G>A likely benign r.(=) p.(=)
-/. - c.1866+29G>A benign r.(=) p.(=)
+/. - c.1895T>G pathogenic r.(?) p.(Leu632Arg)
+/. - c.1895T>G pathogenic r.(?) p.(Leu632Arg)
+/. - c.1910C>T pathogenic r.(?) p.(Ser637Phe)
-/. - c.1948+34G>A benign r.(=) p.(=)
+/. - c.2006C>T pathogenic r.(?) p.(Ser669Leu)
+/? 14 c.2116G>A pathogenic r.(?) p.(Gly706Arg)
+/. - c.2116G>A pathogenic r.(?) p.(Gly706Arg)
-/. - c.*26T>C benign r.(=) p.(=)
?/. - c.*64G>A VUS r.(=) p.(=)
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