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

81 entries on 1 page. Showing entries 1 - 81.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-420A>G - p.(=)
?/. - c.-290C>T - p.(=)
?/. - c.-166T>C - p.(=)
?/. - c.-166T>C - p.(=)
-?/. - c.18T>C r.(?) p.(Ser6=)
?/. - c.97-190T>C r.(=) p.(=)
?/. - c.97-190T>C r.(=) p.(=)
-?/. - c.111G>A r.(?) p.(Ser37=)
?/. - c.172-60_172-59del r.(=) p.(=)
?/. 2 c.207C>T r.(?) G69G
?/. - c.209A>G r.(?) p.(Gln70Arg)
-?/. - c.209A>G r.(?) p.(Gln70Arg)
?/. - c.209A>G r.(?) p.(Gln70Arg)
?/. - c.257C>T r.(?) p.(Pro86Leu)
?/. - c.271G>A r.(?) p.(Val91Ile)
-?/. - c.361G>A r.(?) p.(Ala121Thr)
-?/. - c.361G>A r.(?) p.(Ala121Thr)
?/. - c.367G>A r.(?) p.(Gly123Arg)
-?/. - c.382T>A r.(?) p.(Ser128Thr)
-?/. - c.447G>T r.(?) p.(Gln149His)
-?/. - c.451A>G r.(?) p.(Thr151Ala)
-?/. - c.509C>T r.(?) p.(Pro170Leu)
?/. - c.546G>C r.(?) p.(Glu182Asp)
-/. - c.605C>T r.(?) p.(Thr202Met)
-?/. - c.605C>T r.(?) p.(Thr202Met)
+?/. - c.671C>A r.(?) p.(Ser224Ter)
?/. 6 c.856C>T r.(?) P286S
-?/. - c.858G>T r.(?) p.(Gln286His)
-?/. - c.859G>A r.(?) p.(Ala287Thr)
-?/. - c.895C>G r.(?) p.(Pro299Ala)
-?/. - c.909C>T r.(?) p.(His303=)
-?/. - c.912C>A r.(?) p.(Ala304=)
-?/. - c.926C>T r.(?) p.(Ala309Val)
?/. - c.966A>C r.(?) p.(Gln322His)
-?/. - c.1038A>T r.(?) p.(Pro346=)
+/. - c.1141C>T r.(?) p.(Arg381*)
+/. - c.1141C>T r.(?) p.(Arg381*)
+/. - c.1141C>T r.(?) p.(Arg381*)
-/. - c.1291C>T r.(?) p.(Leu431Phe)
-?/. - c.1336G>A r.(?) p.(Ala446Thr)
-?/. - c.1435C>T r.(?) p.(Leu479=)
?/. 6 c.1480C>T r.(?) P494S
-/. - c.1503_1505del r.(?) p.(Gln502del)
-/. - c.1503_1505dup r.(?) p.(Gln502dup)
-?/. - c.1507G>T r.(?) p.(Ala503Ser)
?/. 6 c.1547C>T r.(?) T516M
+/. - c.1570C>T r.(?) p.(Gln524*)
?/. - c.1699C>T r.(?) p.(Pro567Ser)
-?/. - c.1699C>T r.(?) p.(Pro567Ser)
-?/. - c.1737G>A r.(?) p.(Thr579=)
-?/. - c.1804C>A r.(?) p.(Gln602Lys)
?/. - c.1806_1814dup r.(?) p.(Gln604_Gln606dup)
-?/. - c.1809G>A r.(?) p.(Gln603=)
?/. - c.1918-150A>G r.(=) p.(=)
?/. - c.1918-150A>G r.(=) p.(=)
-?/. - c.2112G>A r.(?) p.(Pro704=)
-?/. - c.2149G>A r.(?) p.(Gly717Ser)
-?/. - c.2220C>A r.(?) p.(Gly740=)
-?/. - c.2253C>T r.(?) p.(Pro751=)
-?/. - c.2275G>A r.(?) p.(Asp759Asn)
-?/. - c.*78G>A r.(=) p.(=)
-?/. - c.*86G>T r.(=) p.(=)
-?/. - c.*126C>T r.(=) p.(=)
?/. - c.*131C>T r.(=) p.(=)
-?/. - c.*178C>A r.(=) p.(=)
-/. - c.*325C>T r.(=) p.(=)
-?/. - c.*450A>G r.(=) p.(=)
?/. - c.*468C>T r.(=) p.(=)
-?/. - c.*572C>T r.(=) p.(=)
?/. - c.*603C>T r.(?) p.(=)
-?/. - c.*603C>T r.(=) p.(=)
?/. - c.*614C>A r.(=) p.(=)
?/. - c.*690C>T r.(=) p.(=)
-?/. - c.*691G>A r.(=) p.(=)
-?/. - c.*847G>A r.(=) p.(=)
-?/. - c.*858C>T r.(=) p.(=)
-?/. - c.*861A>C r.(=) p.(=)
-?/. - c.*861A>C r.(=) p.(=)
-?/. - c.*889C>T r.(=) p.(=)
-?/. - c.*971T>G r.(=) p.(=)
?/. - c.*1092C>T r.(?) p.(=)
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