Transcript #00025253

Transcript name transcript variant 6
Gene name MAPT (microtubule-associated protein tau)
Chromosome 17
Transcript - NCBI ID NM_001123066.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116538.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

294 entries on 3 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.(=)
+/+ 2 c.14G>A - r.(?) p.(Arg5His)
+/+ 2 c.14G>T - r.(?) p.(Arg5Leu)
-/? 2 c.42C>T - r.(?) p.(=)
-/? 2 c.50C>T - r.(?) p.(Thr17Met)
-/? 2 c.54C>T - r.(?) p.(=)
-/? 2 c.88A>G - r.(?) p.(Thr30Ala)
-/? 2 c.117G>A - r.(?) p.(=)
?/. - c.121G>A VUS r.(?) p.(Ala41Thr)
-?/. - c.134-2537T>C likely benign r.(=) p.(=)
-/. - 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 likely benign r.(=) p.(=)
-/. - c.221-8G>A benign r.(=) p.(=)
-?/. - c.256G>A likely benign r.(?) p.(Gly86Ser)
-/- 4 c.256G>A - r.(?) p.(Gly86Ser)
-?/. - c.258C>G likely benign r.(?) p.(=)
-?/. - c.258C>G likely benign r.(?) p.(=)
?/. - c.284C>T VUS r.(?) p.(Thr95Met)
-?/. - c.284C>T likely benign 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.307+12C>G likely benign r.(=) p.(=)
?/. - c.418C>T VUS r.(?) p.(Pro140Ser)
-/? 6 c.605C>T - r.(?) p.(Pro202Leu)
-/. - c.605C>T benign r.(?) p.(Pro202Leu)
-/. - c.605C>T benign r.(?) p.(Pro202Leu)
-?/. - c.616G>A likely benign r.(?) p.(Ala206Thr)
-?/. - 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 VUS r.(?) p.(Val224Gly)
-?/. - c.671T>G likely benign 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.(=)
-/? 6 c.689A>G - r.(?) p.(Gln230Arg)
-/. - c.689A>G benign r.(?) p.(Gln230Arg)
-/. - c.689A>G benign r.(?) p.(Gln230Arg)
-/. - c.689A>G benign r.(?) p.(Gln230Arg)
-?/. - c.783G>A likely benign r.(?) p.(=)
?/. - c.803C>G VUS r.(?) p.(Pro268Arg)
-/? 6 c.853G>A - r.(?) p.(Asp285Asn)
-/. - c.853G>A benign r.(?) p.(Asp285Asn)
-/. - c.853G>A benign r.(?) p.(Asp285Asn)
-/? 6 c.855C>T - r.(?) p.(=)
-/. - c.855C>T benign r.(?) p.(=)
-/. - c.855C>T benign r.(?) p.(=)
-/? 6 c.866T>C - r.(?) p.(Val289Ala)
-/. - c.866T>C benign r.(?) p.(Val289Ala)
-/. - c.866T>C benign r.(?) p.(Val289Ala)
-/. - c.953C>T benign r.(?) p.(Ser318Leu)
-?/. - c.953C>T likely benign r.(?) p.(Ser318Leu)
-?/. - c.1015G>A likely benign r.(?) p.(Gly339Ser)
-?/. - c.1101C>T likely benign r.(?) p.(=)
-?/. - c.1101C>T likely benign r.(?) p.(=)
-/? 6 c.1108C>T - r.(?) p.(Arg370Trp)
-/. - c.1108C>T benign r.(?) p.(Arg370Trp)
-/. - c.1108C>T benign r.(?) p.(Arg370Trp)
-?/. - c.1126+21C>T likely benign r.(=) p.(=)
-?/. - c.1134G>C likely benign r.(?) p.(Met378Ile)
-?/. - c.1164C>T likely benign r.(?) p.(=)
-?/. - c.1218T>C likely benign r.(?) p.(=)
?/. - c.1280C>T VUS r.(?) p.(Ser427Phe)
-?/. - c.1280C>T likely benign r.(?) p.(Ser427Phe)
-/? 8 c.1321T>C - 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.1321T>C benign r.(?) p.(Tyr441His)
-/? 8 c.1339T>C - r.(?) p.(Ser447Pro)
-/. - c.1339T>C benign r.(?) p.(Ser447Pro)
-/. - c.1339T>C benign r.(?) p.(Ser447Pro)
-/. - c.1339T>C benign r.(?) p.(Ser447Pro)
-?/. - c.1405G>A likely benign r.(?) p.(Ala469Thr)
-?/. - c.1405G>A likely benign r.(?) p.(Ala469Thr)
-/? 9 c.1479G>A - r.(?) p.(=)
-/. - c.1479G>A benign r.(?) p.(=)
-/. - c.1479G>A benign r.(?) p.(=)
-/. - c.1479G>A benign r.(?) p.(=)
-/. - c.1479G>A benign r.(?) p.(=)
-/? 9 c.1483G>A - r.(?) p.(Ala495Thr)
-/. - c.1483G>A benign r.(?) p.(Ala495Thr)
-/? 10 c.1512T>C - r.(?) p.(=)
-/. - c.1512T>C benign r.(?) p.(=)
-/. - c.1512T>C benign r.(?) p.(=)
-/. - c.1512T>C benign r.(?) p.(=)
?/. - c.1537C>A VUS r.(?) p.(Pro513Thr)
-?/. - c.1562-31T>C likely benign r.(=) p.(=)
-/. - c.1562-26G>A benign r.(=) p.(=)
-?/. - c.1562-12C>T likely benign r.(=) p.(=)
-/? 11 c.1605C>T - r.(?) p.(=)
-?/. - c.1663A>C likely benign r.(?) p.(Thr555Pro)
-?/. - c.1670A>G likely benign r.(?) p.(Glu557Gly)
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