Unique variants in the MAP1B gene

Information The variants shown are described using the NM_005909.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Reported     

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     
-?/. 1 - c.127G>A r.(?) p.(Val43Ile) - likely benign g.71403485G>A - MAP1B(NM_005909.3):c.127G>A (p.(Val43Ile)) - MAP1B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.175A>G r.(?) p.(Ile59Val) - likely benign g.71403533A>G - MAP1B(NM_005909.5):c.175A>G (p.I59V) - MAP1B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.457C>T r.(?) p.(Gln153*) - VUS g.71482528C>T - MAP1B(NM_005909.3):c.457C>T (p.(Gln153*)) - MAP1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.895C>T r.(?) p.(Arg299*) - likely pathogenic g.71490077C>T - MAP1B(NM_005909.5):c.895C>T (p.R299*) - MAP1B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1324A>C r.(?) p.(Thr442Pro) - VUS g.71490506A>C - MAP1B(NM_005909.5):c.1324A>C (p.T442P) - MAP1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1341C>G r.(?) p.(Asp447Glu) - VUS g.71490523C>G - MAP1B(NM_005909.3):c.1341C>G (p.(Asp447Glu)) - MAP1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1518A>T r.(?) p.(Lys506Asn) - likely benign g.71490700A>T - MAP1B(NM_005909.3):c.1518A>T (p.(Lys506Asn)) - MAP1B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1711G>A r.(?) p.(Val571Met) - likely benign g.71490893G>A - MAP1B(NM_005909.3):c.1711G>A (p.(Val571Met)) - MAP1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2253A>C r.(?) p.(Lys751Asn) - VUS g.71491435A>C - MAP1B(NM_005909.5):c.2253A>C (p.(Lys751Asn)) - MAP1B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 5 c.2253dup r.(?) p.(Pro752Thrfs*35) ACMG likely pathogenic g.71491435dup g.72195608dup - - MAP1B_000041 - - ClinVar-3544372 - Germline ? - - - - Marketa Wayhelova
-?/. 1 - c.2374G>A r.(?) p.(Ala792Thr) - likely benign g.71491556G>A - MAP1B(NM_005909.5):c.2374G>A (p.(Ala792Thr)) - MAP1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2390C>T r.(?) p.(Ala797Val) - likely benign g.71491572C>T g.72195745C>T MAP1B(NM_005909.5):c.2390C>T (p.A797V) - MAP1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2459C>T r.(?) p.(Ala820Val) - likely benign g.71491641C>T - MAP1B(NM_005909.3):c.2459C>T (p.(Ala820Val)) - MAP1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2584G>A r.(?) p.(Glu862Lys) - VUS g.71491766G>A g.72195939G>A MAP1B(NM_005909.5):c.2584G>A (p.E862K) - MAP1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.2710G>A r.(?) p.(Glu904Lys) - likely benign, VUS g.71491892G>A - MAP1B(NM_005909.3):c.2710G>A (p.(Glu904Lys)), MAP1B(NM_005909.5):c.2710G>A (p.E904K) - MAP1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.2768T>C r.(?) p.(Ile923Thr) - likely benign g.71491950T>C - MAP1B(NM_005909.3):c.2768T>C (p.(Ile923Thr)) - MAP1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2794G>A r.(?) p.(Gly932Ser) - VUS g.71491976G>A - MAP1B(NM_005909.5):c.2794G>A (p.G932S) - MAP1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3065A>C r.(?) p.(Glu1022Ala) - likely benign g.71492247A>C - MAP1B(NM_005909.3):c.3065A>C (p.(Glu1022Ala)) - MAP1B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.3115dup r.(?) p.(Met1039Asnfs*4) - likely pathogenic g.71492297dup - MAP1B(NM_005909.5):c.3115dupA (p.M1039Nfs*4) - MAP1B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.3316C>T r.(?) p.(Arg1106*) - pathogenic g.71492498C>T - - - MAP1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3593A>G r.(?) p.(Lys1198Arg) - VUS g.71492775A>G - MAP1B(NM_005909.5):c.3593A>G (p.(Lys1198Arg)) - MAP1B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3770C>T r.(?) p.(Pro1257Leu) - VUS g.71492952C>T - MAP1B(NM_005909.5):c.3770C>T (p.P1257L) - MAP1B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3796C>T r.(?) p.(Pro1266Ser) - VUS g.71492978C>T - MAP1B(NM_005909.5):c.3796C>T (p.P1266S) - MAP1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3845C>T r.(?) p.(Thr1282Met) - VUS g.71493027C>T g.72197200C>T MAP1B(NM_005909.5):c.3845C>T (p.T1282M) - MAP1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3979G>A r.(?) p.(Val1327Met) - likely benign g.71493161G>A - MAP1B(NM_005909.5):c.3979G>A (p.(Val1327Met)) - MAP1B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4313C>T r.(?) p.(Ser1438Phe) - likely benign g.71493495C>T - MAP1B(NM_005909.3):c.4313C>T (p.(Ser1438Phe)) - MAP1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4979T>C r.(?) p.(Met1660Thr) - VUS g.71494161T>C - MAP1B(NM_005909.3):c.4979T>C (p.(Met1660Thr)) - MAP1B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4995G>T r.(?) p.(Gln1665His) - VUS g.71494177G>T - MAP1B(NM_005909.5):c.4995G>T (p.Q1665H) - MAP1B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.5129C>T r.(?) p.(Ser1710Phe) - VUS g.71494311C>T - MAP1B(NM_005909.3):c.5129C>T (p.(Ser1710Phe)) - MAP1B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5210C>T r.(?) p.(Thr1737Ile) - VUS g.71494392C>T - MAP1B(NM_005909.3):c.5210C>T (p.(Thr1737Ile)) - MAP1B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5249T>C r.(?) p.(Leu1750Pro) - VUS g.71494431T>C - MAP1B(NM_005909.3):c.5249T>C (p.(Leu1750Pro)) - MAP1B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5292A>T r.(?) p.(Ser1764=) - likely benign g.71494474A>T - MAP1B(NM_005909.5):c.5292A>T (p.S1764=) - MAP1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5402C>T r.(?) p.(Ser1801Leu) - VUS g.71494584C>T - MAP1B(NM_005909.5):c.5402C>T (p.S1801L) - MAP1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.5866T>C r.(?) p.(Ser1956Pro) - VUS g.71495048T>C - MAP1B(NM_005909.5):c.5866T>C (p.S1956P) - MAP1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.6019T>C r.(?) p.(Ser2007Pro) - VUS g.71495201T>C - - - MAP1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.6097C>T r.(?) p.(Arg2033*) - likely pathogenic g.71495279C>T - MAP1B(NM_005909.5):c.6097C>T (p.R2033*) - MAP1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.6169T>A r.(?) p.(Tyr2057Asn) - VUS g.71495351T>A g.72199524T>A MAP1B(NM_005909.3):c.6169T>A (p.(Tyr2057Asn)) - MAP1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.6171T>G r.(?) p.(Tyr2057Ter) - VUS g.71495353T>G g.72199526T>G MAP1B(NM_005909.3):c.6171T>G (p.(Tyr2057Ter)) - MAP1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6230G>A r.(?) p.(Arg2077His) - likely benign g.71495412G>A - MAP1B(NM_005909.5):c.6230G>A (p.R2077H) - MAP1B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.6439C>T r.(?) p.(Pro2147Ser) - VUS g.71495621C>T - MAP1B(NM_005909.5):c.6439C>T (p.P2147S) - MAP1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.6700G>T r.(?) p.(Ala2234Ser) - likely benign g.71495882G>T - MAP1B(NM_005909.3):c.6700G>T (p.(Ala2234Ser)) - MAP1B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6932C>T r.(?) p.(Ala2311Val) - likely benign g.71496114C>T - MAP1B(NM_005909.5):c.6932C>T (p.(Ala2311Val)) - MAP1B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.7003G>A r.(?) p.(Ala2335Thr) - likely benign g.71496185G>A g.72200358G>A MAP1B(NM_005909.5):c.7003G>A (p.A2335T) - MAP1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7013G>A r.(?) p.(Gly2338Glu) - VUS g.71499390G>A - - - MAP1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.7137_7138del r.(?) p.(Arg2379SerfsTer12) - likely pathogenic g.71499514_71499515del - - - MAP1B_000048 - - - - Unknown - - - - - MobiDetails
?/. 1 - c.7333A>C r.(?) p.(Ile2445Leu) - VUS g.71500992A>C - MAP1B(NM_005909.5):c.7333A>C (p.I2445L) - MAP1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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