Transcript #00001360

Transcript name transcript variant 2
Gene name AMOT (angiomotin)
Chromosome X
Transcript - NCBI ID NM_133265.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_573572.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-356+7237_-356+7238del - - p.(=)
-?/. - c.-355-7086C>T likely benign r.(=) p.(=)
-?/. - c.-355-6814C>G likely benign r.(=) p.(=)
-?/. - c.-355-6567A>G likely benign r.(=) p.(=)
?/. - c.-347A>C VUS r.(?) p.(=)
-?/. - c.-125G>A likely benign r.(?) p.(=)
-?/. - c.-48_-46dup likely benign - -
?/. - c.-34_-33insAGC VUS r.(?) p.(=)
?/. - c.15G>A - r.(=) p.(=)
+?/. 7 c.699G>C - r.spl? p.(Gln233His)
?/. - c.726C>T - r.(=) p.(=)
-?/. - c.1014-8G>A likely benign r.(=) p.(=)
?/. - c.1121G>A VUS r.(?) p.(Arg374Gln)
?/. - c.1203C>A - r.(=) p.(=)
?/. - c.1229G>A VUS r.(?) p.(Ser410Asn)
?/. - c.1247-169C>T - - p.(=)
?/. - c.1261G>A - r.(?) p.(Gly421Arg)
-?/. - c.1261G>A likely benign r.(?) p.(Gly421Arg)
?/. - c.1271G>A VUS r.(?) p.(Arg424His)
-?/. - c.1382C>T likely benign r.(?) p.(Thr461Met)
?/. - c.1438G>A VUS r.(?) p.(Ala480Thr)
-?/. - c.1456G>A likely benign r.(?) p.(Ala486Thr)
-?/. - c.1465_1466insTGCCGCCATCACTGC likely benign r.(?) p.(Ala489delinsValProProSerLeuPro)
?/. - c.1511_1537del VUS r.(?) p.(Val504_Pro512del)
?/. - c.1511_1537del - r.(?) p.(Val504_Pro512del)
?/. - c.1576A>G - r.(?) p.(Thr526Ala)
?/. - c.1625C>T VUS r.(?) p.(Ala542Val)
-?/. - c.1706_1723del likely benign r.(?) p.(Pro569_Ala574del)
-?/. - c.1730C>T likely benign r.(?) p.(Pro577Leu)
-?/. - c.1817C>T likely benign r.(?) p.(Ala606Val)
?/. - c.1855_1857dup - r.(?) p.(Pro619dup)
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