Transcript #00000494

Transcript name transcript variant 2
Gene name MAMLD1 (mastermind-like domain containing 1)
Chromosome X
Transcript - NCBI ID NM_005491.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005482.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

67 entries on 1 page. Showing entries 1 - 67.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-420A>G - - p.(=)
?/. - c.-290C>T - - p.(=)
?/. - c.-166T>C - - p.(=)
?/. - c.-166T>C - - p.(=)
-?/. - c.18T>C likely benign r.(?) p.(=)
?/. - c.97-190T>C - - p.(=)
?/. - c.97-190T>C - - p.(=)
-?/. - c.111G>A likely benign r.(?) p.(=)
?/. - c.172-60_172-59del - - p.(=)
?/. 2 c.207C>T - r.(?) G69G
?/. - c.209A>G VUS r.(?) p.(Gln70Arg)
?/. - c.257C>T VUS r.(?) p.(Pro86Leu)
-?/. - c.361G>A likely benign r.(?) p.(Ala121Thr)
-?/. - c.361G>A likely benign r.(?) p.(Ala121Thr)
?/. - c.367G>A VUS r.(?) p.(Gly123Arg)
-?/. - c.382T>A likely benign r.(?) p.(Ser128Thr)
-?/. - c.447G>T likely benign r.(?) p.(Gln149His)
-?/. - c.509C>T likely benign r.(?) p.(Pro170Leu)
?/. - c.546G>C VUS r.(?) p.(Glu182Asp)
-/. - c.605C>T benign r.(?) p.(Thr202Met)
-?/. - c.605C>T likely benign r.(?) p.(Thr202Met)
+?/. - c.671C>A likely pathogenic r.(?) p.(Ser224*)
?/. 6 c.856C>T - r.(?) P286S
-?/. - c.858G>T likely benign r.(?) p.(Gln286His)
-?/. - c.859G>A likely benign r.(?) p.(Ala287Thr)
-?/. - c.895C>G likely benign r.(?) p.(Pro299Ala)
-?/. - c.909C>T likely benign r.(?) p.(=)
-?/. - c.912C>A likely benign r.(?) p.(=)
-?/. - c.926C>T likely benign r.(?) p.(Ala309Val)
?/. - c.966A>C VUS r.(?) p.(Gln322His)
-?/. - c.1038A>T likely benign r.(?) p.(=)
+/. - c.1141C>T pathogenic r.(?) p.(Arg381*)
+/. - c.1141C>T pathogenic r.(?) p.(Arg381*)
+/. - c.1141C>T pathogenic r.(?) p.(Arg381*)
-/. - c.1291C>T benign r.(?) p.(Leu431Phe)
-?/. - c.1336G>A likely benign r.(?) p.(Ala446Thr)
?/. 6 c.1480C>T - r.(?) P494S
-/. - c.1503_1505del benign r.(?) p.(Gln502del)
-/. - c.1503_1505dup benign r.(?) p.(Gln502dup)
-?/. - c.1507G>T likely benign r.(?) p.(Ala503Ser)
?/. 6 c.1547C>T - r.(?) T516M
+/. - c.1570C>T pathogenic r.(?) p.(Gln524*)
?/. - c.1699C>T VUS r.(?) p.(Pro567Ser)
-?/. - c.1699C>T likely benign r.(?) p.(Pro567Ser)
-?/. - c.1804C>A likely benign r.(?) p.(Gln602Lys)
?/. - c.1806_1814dup VUS r.(?) p.(Gln604_Gln606dup)
?/. - c.1918-150A>G - - p.(=)
?/. - c.1918-150A>G - - p.(=)
-?/. - c.2149G>A likely benign r.(?) p.(Gly717Ser)
-?/. - c.2220C>A likely benign r.(?) p.(=)
-?/. - c.2275G>A likely benign r.(?) p.(Asp759Asn)
-?/. - c.*78G>A likely benign r.(=) p.(=)
-?/. - c.*126C>T likely benign r.(=) p.(=)
-?/. - c.*178C>A likely benign r.(=) p.(=)
-/. - c.*325C>T benign r.(=) p.(=)
-?/. - c.*450A>G likely benign r.(=) p.(=)
?/. - c.*468C>T VUS r.(=) p.(=)
-?/. - c.*572C>T likely benign r.(=) p.(=)
?/. - c.*603C>T VUS r.(?) p.(=)
-?/. - c.*603C>T likely benign r.(=) p.(=)
?/. - c.*614C>A VUS r.(=) p.(=)
-?/. - c.*847G>A likely benign r.(=) p.(=)
-?/. - c.*858C>T likely benign r.(=) p.(=)
-?/. - c.*861A>C likely benign r.(=) p.(=)
-?/. - c.*889C>T likely benign r.(=) p.(=)
-?/. - c.*971T>G likely benign r.(=) p.(=)
?/. - c.*1092C>T VUS r.(?) p.(=)
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