All transcript variants in gene MAPT

Information The variants shown are described using the transcript reference sequence.

301 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-13A>G r.(?) p.(=) - benign g.44039691A>G - MAPT(NM_001123066.3):c.-13A>G, MAPT(NM_005910.5):c.-13A>G - MAPT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-13A>G r.(?) p.(=) - benign g.44039691A>G - MAPT(NM_001123066.3):c.-13A>G, MAPT(NM_005910.5):c.-13A>G - MAPT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-13A>G r.(?) p.(=) - benign g.44039691A>G - MAPT(NM_001123066.3):c.-13A>G, MAPT(NM_005910.5):c.-13A>G - MAPT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.14G>A r.(?) p.(Arg5His) - - g.44039717G>A - - - MAPT_000037 Point mutation in coding region predicting an amino acid substitution - - rs63750959 Unknown no - - 0 - Marc Cruts
+/+ 2 c.14G>T r.(?) p.(Arg5Leu) - - g.44039717G>T - - - MAPT_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750959 Unknown no - - 0 - Marc Cruts
-/? 2 c.42C>T r.(?) p.(=) - - g.41395581C>T - - - MAPT_000011 Observed in 1 African individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Silent point mutation in coding region"" - - - Unknown - - - 0 - Marc Cruts
-/? 2 c.50C>T r.(?) p.(Thr17Met) - - g.41395589C>T - - - MAPT_000012 Observed in 1 African individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" - - - Unknown - - - 0 - Marc Cruts
-/? 2 c.54C>T r.(?) p.(=) - - g.41395593C>T - - - MAPT_000013 Observed in 1 Asian individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Silent point mutation in coding region"" - - rs63750811 Unknown - - - 0 - Marc Cruts
-/? 2 c.88A>G r.(?) p.(Thr30Ala) - - g.41395627A>G - - - MAPT_000014 Observed in 1 African individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" - - - Unknown - - - 0 - Marc Cruts
-/? 2 c.117G>A r.(?) p.(=) - - g.41395656G>A - - - MAPT_000015 Silent point mutation in coding region - - rs63750529 Unknown - - - 0 - Marc Cruts
?/. - c.121G>A r.(?) p.(Ala41Thr) - VUS g.44039824G>A - MAPT(NM_001123066.3):c.121G>A (p.A41T) - MAPT_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.134-2537T>C r.(=) p.(=) - likely benign g.44046688T>C - MAPT(NM_001123066.3):c.134-2537T>C - MAPT_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.220+18C>T r.(=) p.(=) - benign g.44049329C>T - MAPT(NM_001123066.3):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.220+18C>T r.(=) p.(=) - benign g.44049329C>T - MAPT(NM_001123066.3):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.220+18C>T r.(=) p.(=) - benign g.44049329C>T - MAPT(NM_001123066.3):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.221-8G>A r.(=) p.(=) - benign g.44051743G>A - MAPT(NM_001123066.3):c.221-8G>A - MAPT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.221-8G>A r.(=) p.(=) - likely benign g.44051743G>A - MAPT(NM_001123066.3):c.221-8G>A - MAPT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 4 c.256G>A r.(?) p.(Gly86Ser) - - g.44051786G>A - - - MAPT_000040 Not segregating with disease: Detected in 1 patient but not in 2 affected relatives.. /r/Point mutation in coding region predicting an amino acid substitution - - rs63751135 Unknown no - - 0 - Marc Cruts
-?/. - c.256G>A r.(?) p.(Gly86Ser) - likely benign g.44051786G>A - MAPT(NM_001123066.3):c.256G>A (p.G86S) - MAPT_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.258C>G r.(?) p.(=) - likely benign g.44051788C>G - MAPT(NM_001123066.3):c.258C>G (p.G86=), MAPT(NM_005910.5):c.258C>G (p.G86=) - MAPT_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.258C>G r.(?) p.(=) - likely benign g.44051788C>G - MAPT(NM_001123066.3):c.258C>G (p.G86=), MAPT(NM_005910.5):c.258C>G (p.G86=) - MAPT_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.284C>T r.(?) p.(Thr95Met) - VUS g.44051814C>T - MAPT(NM_001123066.3):c.284C>T (p.T95M), MAPT(NM_005910.5):c.284C>T (p.T95M) - MAPT_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.284C>T r.(?) p.(Thr95Met) - likely benign g.44051814C>T - MAPT(NM_001123066.3):c.284C>T (p.T95M), MAPT(NM_005910.5):c.284C>T (p.T95M) - MAPT_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.307+9A>G r.(=) p.(=) - benign g.44051846A>G - MAPT(NM_001123066.3):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.307+9A>G r.(=) p.(=) - benign g.44051846A>G - MAPT(NM_001123066.3):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.307+9A>G r.(=) p.(=) - benign g.44051846A>G - MAPT(NM_001123066.3):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.307+9A>G r.(=) p.(=) - benign g.44051846A>G - MAPT(NM_001123066.3):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.307+12C>G r.(=) p.(=) - likely benign g.44051849C>G - MAPT(NM_005910.5):c.307+12C>G - MAPT_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.307+12C>G r.(=) p.(=) - likely benign g.44051849C>G - MAPT(NM_005910.5):c.307+12C>G - MAPT_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.418C>T r.(?) p.(Pro140Ser) - VUS g.44060588C>T - MAPT(NM_001123066.3):c.418C>T (p.P140S) - MAPT_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/? 6 c.605C>T r.(?) p.(Pro202Leu) - - g.41416612C>T - - - MAPT_000016 Point mutation in coding region predicting an amino acid substitution - - rs63750417 Unknown - - - 0 - Marc Cruts
-/. - c.605C>T r.(?) p.(Pro202Leu) - benign g.44060775C>T - MAPT(NM_001123066.3):c.605C>T (p.P202L) - MAPT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.605C>T r.(?) p.(Pro202Leu) - benign g.44060775C>T - MAPT(NM_001123066.3):c.605C>T (p.P202L) - MAPT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.616G>A r.(?) p.(Ala206Thr) - likely benign g.44060786G>A - MAPT(NM_001123066.3):c.616G>A (p.A206T) - MAPT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.637G>A r.(?) p.(Gly213Arg) - likely benign g.44060807G>A - MAPT(NM_001123066.3):c.637G>A (p.G213R) - MAPT_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.637G>A r.(?) p.(Gly213Arg) - likely benign g.44060807G>A - MAPT(NM_001123066.3):c.637G>A (p.G213R) - MAPT_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.664C>A r.(?) p.(Arg222Ser) - likely benign g.44060834C>A - MAPT(NM_001123066.3):c.664C>A (p.R222S) - MAPT_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.664C>A r.(?) p.(Arg222Ser) - likely benign g.44060834C>A - MAPT(NM_001123066.3):c.664C>A (p.R222S) - MAPT_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.671T>G r.(?) p.(Val224Gly) - likely benign g.44060841T>G - MAPT(NM_001123066.3):c.671T>G (p.V224G) - MAPT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.671T>G r.(?) p.(Val224Gly) - likely benign g.44060841T>G - MAPT(NM_001123066.3):c.671T>G (p.V224G) - MAPT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.671T>G r.(?) p.(Val224Gly) - VUS g.44060841T>G - MAPT(NM_001123066.3):c.671T>G (p.V224G) - MAPT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.687C>A r.(?) p.(=) - likely benign g.44060857C>A - MAPT(NM_001123066.3):c.687C>A (p.P229=) - MAPT_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/? 6 c.689A>G r.(?) p.(Gln230Arg) - - g.41416696A>G - - - MAPT_000017 Point mutation in coding region predicting an amino acid substitution - - rs63750072 Unknown - - - 0 - Marc Cruts
-/. - c.689A>G r.(?) p.(Gln230Arg) - benign g.44060859A>G - MAPT(NM_001123066.3):c.689A>G (p.Q230R) - MAPT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.689A>G r.(?) p.(Gln230Arg) - benign g.44060859A>G - MAPT(NM_001123066.3):c.689A>G (p.Q230R) - MAPT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.689A>G r.(?) p.(Gln230Arg) - benign g.44060859A>G - MAPT(NM_001123066.3):c.689A>G (p.Q230R) - MAPT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.689A>G r.(?) p.(Gln230Arg) - - g.44060859A>G g.45983493A>G - - MAPT_000017 164 heterozygous; Clinindb (India) Faruq 2020, submtted - rs63750072 Germline - 164/2795 individuals - 0 - Mohammed Faruq
-?/. - c.783G>A r.(?) p.(=) - likely benign g.44060953G>A - MAPT(NM_001123066.3):c.783G>A (p.A261=) - MAPT_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.803C>G r.(?) p.(Pro268Arg) - VUS g.44060973C>G - MAPT(NM_001123066.3):c.803C>G (p.P268R) - MAPT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/? 6 c.853G>A r.(?) p.(Asp285Asn) - - g.41416860G>A - - - MAPT_000018 Point mutation in coding region predicting an amino acid substitution - - rs62063786 Unknown - - - 0 - Marc Cruts
-/. - c.853G>A r.(?) p.(Asp285Asn) - benign g.44061023G>A - MAPT(NM_001123066.3):c.853G>A (p.D285N) - MAPT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.853G>A r.(?) p.(Asp285Asn) - benign g.44061023G>A - MAPT(NM_001123066.3):c.853G>A (p.D285N) - MAPT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/? 6 c.855C>T r.(?) p.(=) - - g.41416862C>T - - - MAPT_000019 Silent point mutation in coding region - - rs63750222 Unknown - - - 0 - Marc Cruts
-/. - c.855C>T r.(?) p.(=) - benign g.44061025C>T - MAPT(NM_001123066.3):c.855C>T (p.D285=) - MAPT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.855C>T r.(?) p.(=) - benign g.44061025C>T - MAPT(NM_001123066.3):c.855C>T (p.D285=) - MAPT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/? 6 c.866T>C r.(?) p.(Val289Ala) - - g.41416873T>C - - - MAPT_000020 Point mutation in coding region predicting an amino acid substitution - - rs62063787 Unknown - - - 0 - Marc Cruts
-/. - c.866T>C r.(?) p.(Val289Ala) - benign g.44061036T>C - MAPT(NM_001123066.3):c.866T>C (p.V289A) - MAPT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.866T>C r.(?) p.(Val289Ala) - benign g.44061036T>C - MAPT(NM_001123066.3):c.866T>C (p.V289A) - MAPT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.890C>T r.(?) p.(Ala297Val) - likely benign g.44061060C>T - MAPT(NM_001123066.3):c.890C>T (p.A297V) - MAPT_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.953C>T r.(?) p.(Ser318Leu) - benign g.44061123C>T - MAPT(NM_001123066.3):c.953C>T (p.S318L) - MAPT_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.953C>T r.(?) p.(Ser318Leu) - likely benign g.44061123C>T - MAPT(NM_001123066.3):c.953C>T (p.S318L) - MAPT_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1015G>A r.(?) p.(Gly339Ser) - likely benign g.44061185G>A - MAPT(NM_001123066.3):c.1015G>A (p.G339S) - MAPT_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1101C>T r.(?) p.(=) - likely benign g.44061271C>T - MAPT(NM_001123066.3):c.1101C>T (p.P367=) - MAPT_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1101C>T r.(?) p.(=) - likely benign g.44061271C>T - MAPT(NM_001123066.3):c.1101C>T (p.P367=) - MAPT_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/? 6 c.1108C>T r.(?) p.(Arg370Trp) - - g.41417115C>T - - - MAPT_000021 Point mutation in coding region predicting an amino acid substitution - - rs63750862 Unknown - - - 0 - Marc Cruts
-/. - c.1108C>T r.(?) p.(Arg370Trp) - benign g.44061278C>T - MAPT(NM_001123066.3):c.1108C>T (p.R370W) - MAPT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1108C>T r.(?) p.(Arg370Trp) - benign g.44061278C>T - MAPT(NM_001123066.3):c.1108C>T (p.R370W) - MAPT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1126+21C>T r.(=) p.(=) - likely benign g.44061317C>T - MAPT(NM_001123066.3):c.1126+21C>T - MAPT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1134G>C r.(?) p.(Met378Ile) - likely benign g.44064413G>C - MAPT(NM_005910.5):c.381G>C (p.M127I) - MAPT_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1164C>T r.(?) p.(=) - likely benign g.44064443C>T - MAPT(NM_001123066.3):c.1164C>T (p.S388=) - MAPT_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1218T>C r.(?) p.(=) - likely benign g.44067279T>C - MAPT(NM_001123066.3):c.1218T>C (p.N406=) - MAPT_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1280C>T r.(?) p.(Ser427Phe) - VUS g.44067341C>T - MAPT(NM_001123066.3):c.1280C>T (p.S427F) - MAPT_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1280C>T r.(?) p.(Ser427Phe) - likely benign g.44067341C>T - MAPT(NM_001123066.3):c.1280C>T (p.S427F) - MAPT_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1280C>T r.(?) p.(Ser427Phe) - - g.44067341C>T g.45989975C>T - - MAPT_000124 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143956882 Germline - 3/2795 individuals - 0 - Mohammed Faruq
-/? 8 c.1321T>C r.(?) p.(Tyr441His) - - g.41423219T>C - - - MAPT_000022 Point mutation in coding region predicting an amino acid substitution - - rs2258689 Unknown - - - 0 - Marc Cruts
-/. - c.1321T>C r.(?) p.(Tyr441His) - benign g.44067382T>C - MAPT(NM_001123066.3):c.1321T>C (p.Y441H) - MAPT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1321T>C r.(?) p.(Tyr441His) - benign g.44067382T>C - MAPT(NM_001123066.3):c.1321T>C (p.Y441H) - MAPT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1321T>C r.(?) p.(Tyr441His) - benign g.44067382T>C - MAPT(NM_001123066.3):c.1321T>C (p.Y441H) - MAPT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1321T>C r.(?) p.(Tyr441His) - benign g.44067382T>C - MAPT(NM_001123066.3):c.1321T>C (p.Y441H) - MAPT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/? 8 c.1339T>C r.(?) p.(Ser447Pro) - - g.41423237T>C - - - MAPT_000023 Point mutation in coding region predicting an amino acid substitution - - rs10445337 Unknown - - - 0 - Marc Cruts
-/. - c.1339T>C r.(?) p.(Ser447Pro) - benign g.44067400T>C - MAPT(NM_001123066.3):c.1339T>C (p.S447P) - MAPT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1339T>C r.(?) p.(Ser447Pro) - benign g.44067400T>C - MAPT(NM_001123066.3):c.1339T>C (p.S447P) - MAPT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1339T>C r.(?) p.(Ser447Pro) - benign g.44067400T>C - MAPT(NM_001123066.3):c.1339T>C (p.S447P) - MAPT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1405G>A r.(?) p.(Ala469Thr) - likely benign g.44068850G>A - MAPT(NM_001123066.3):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T) - MAPT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1405G>A r.(?) p.(Ala469Thr) - likely benign g.44068850G>A - MAPT(NM_001123066.3):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T) - MAPT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/? 9 c.1479G>A r.(?) p.(=) - - g.41424761G>A - - - MAPT_000024 Silent point mutation in coding region - - rs1052551 Unknown - - - 0 - Marc Cruts
-/. - c.1479G>A r.(?) p.(=) - benign g.44068924G>A - MAPT(NM_001123066.3):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=) - MAPT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1479G>A r.(?) p.(=) - benign g.44068924G>A - MAPT(NM_001123066.3):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=) - MAPT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1479G>A r.(?) p.(=) - benign g.44068924G>A - MAPT(NM_001123066.3):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=) - MAPT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1479G>A r.(?) p.(=) - benign g.44068924G>A - MAPT(NM_001123066.3):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=) - MAPT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/? 9 c.1483G>A r.(?) p.(Ala495Thr) - - g.41424765G>A - - - MAPT_000025 Not segregating with disease: Detected in 1 patient but not in 1 affected relative.. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750612 Unknown - - - 0 - Marc Cruts
-/. - c.1483G>A r.(?) p.(Ala495Thr) - benign g.44068928G>A - MAPT(NM_005910.5):c.532G>A (p.A178T) - MAPT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1483G>A r.(?) p.(Ala495Thr) - benign g.44068928G>A - MAPT(NM_005910.5):c.532G>A (p.A178T) - MAPT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1507+16T>C r.(=) p.(=) - likely benign g.44068968T>C - MAPT(NM_005910.5):c.556+16T>C - MAPT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/? 10 c.1512T>C r.(?) p.(=) - - g.41427131T>C - - - MAPT_000026 Silent point mutation in coding region - - rs62063845 Unknown - - - 0 - Marc Cruts
-/. - c.1512T>C r.(?) p.(=) - benign g.44071294T>C - MAPT(NM_001123066.3):c.1512T>C (p.T504=) - MAPT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1512T>C r.(?) p.(=) - benign g.44071294T>C - MAPT(NM_001123066.3):c.1512T>C (p.T504=) - MAPT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1512T>C r.(?) p.(=) - benign g.44071294T>C - MAPT(NM_001123066.3):c.1512T>C (p.T504=) - MAPT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1537C>A r.(?) p.(Pro513Thr) - VUS g.44071319C>A - MAPT(NM_001123066.3):c.1537C>A (p.P513T) - MAPT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1562-31T>C r.(=) p.(=) - likely benign g.44073734T>C - MAPT(NM_001123066.3):c.1562-31T>C - MAPT_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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