Transcript #00000806

Transcript name transcript variant 1
Gene name ATRX (alpha thalassemia/mental retardation syndrome X-linked)
Chromosome X
Transcript - NCBI ID NM_000489.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000480.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

151 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-14G>A r.(?) p.(=)
+?/. - c.109C>T r.(?) p.(Arg37*)
+?/. - c.109C>T r.(?) p.(Arg37*)
+?/. - c.109C>T r.(?) p.(Arg37*)
+/. - c.109C>T r.(?) p.(Arg37*)
+/. - c.109C>T r.(?) p.(Arg37Ter)
+?/. - c.166_167dup r.(?) p.(Met56Ilefs*2)
-?/. - c.189+7A>G r.(=) p.(=)
+?/. - c.213del r.(?) p.(Lys72Serfs*15)
-/. - c.228G>A r.(?) p.(Ser76=)
-/. - c.228G>A r.(?) p.(Ser76=)
-/. - c.228G>A r.(?) p.(Ser76=)
?/. - c.317A>T r.(?) p.(Asp106Val)
+/. 7 c.533T>A r.(?) p.(Val178Asp)
+?/. - c.536A>G r.(?) p.(Asn179Ser)
+?/. - c.567C>G r.(?) p.(His189Gln)
?/. - c.661A>C r.(?) p.(Arg221=)
+?/. - c.734T>A r.(?) p.(Leu245Gln)
+/. - c.736C>T r.(?) p.(Arg246Cys)
+/. - c.736C>T r.(?) p.(Arg246Cys)
+/. - c.797A>G r.(?) p.(Tyr266Cys)
-?/. - c.846C>T r.(?) p.(Ser282=)
?/. - c.1013C>G r.(?) p.(Ser338Cys)
-?/. - c.1032C>T r.(?) p.(Ser344=)
-?/. - c.1077G>T r.(?) p.(Leu359=)
-?/. - c.1157C>T r.(?) p.(Ala386Val)
-?/. - c.1287C>G r.(?) p.(Thr429=)
-?/. - c.1303A>G r.(?) p.(Ile435Val)
?/. - c.1366G>T r.(?) p.(Asp456Tyr)
?/. - c.1423C>G r.(?) p.(His475Asp)
-?/. - c.1633C>G r.(?) p.(Gln545Glu)
-?/. - c.1633C>G r.(?) p.(Gln545Glu)
+/. 9 c.1676C>T r.(?) p.(Ser559Leu)
+/. 9 c.1679C>G r.(?) p.(Ser560Cys)
+/. - c.1727C>A r.(?) p.(Ser576Ter)
-?/. - c.1727C>T r.(?) p.(Ser576Leu)
?/. - c.1729A>G r.(?) p.(Lys577Glu)
-?/. - c.1880G>A r.(?) p.(Cys627Tyr)
?/. - c.2000C>T r.(?) p.(Pro667Leu)
-?/. - c.2000C>T r.(?) p.(Pro667Leu)
-?/. - c.2001G>A r.(?) p.(Pro667=)
-?/. - c.2021C>T r.(?) p.(Thr674Ile)
+?/. - c.2102G>A r.(?) p.(Arg701His)
-?/. - c.2117G>C r.(?) p.(Ser706Thr)
-?/. - c.2169G>C r.(?) p.(Glu723Asp)
-?/. - c.2273A>G r.(?) p.(His758Arg)
-?/. - c.2325T>C r.(?) p.(Asp775=)
?/. - c.2402C>A r.(?) p.(Ser801Tyr)
-?/. - c.2540T>C r.(?) p.(Phe847Ser)
-?/. - c.2544C>T r.(?) p.(Asp848=)
-/. - c.2595C>G r.(?) p.(His865Gln)
-?/. - c.2595C>G r.(?) p.(His865Gln)
-/. - c.2595C>G r.(?) p.(His865Gln)
?/. - c.2648A>G r.(?) p.(Gln883Arg)
-?/. - c.2648A>G r.(?) p.(Gln883Arg)
-?/. - c.2652G>C r.(?) p.(Glu884Asp)
?/. - c.2658G>C r.(?) p.(Glu886Asp)
-?/. - c.2658G>C r.(?) p.(Glu886Asp)
-?/. - c.2701A>G r.(?) p.(Ile901Val)
-?/. - c.2720G>A r.(?) p.(Arg907Gln)
-?/. - c.2720G>A r.(?) p.(Arg907Gln)
-?/. - c.2744G>C r.(?) p.(Ser915Thr)
-/. - c.2785C>G r.(?) p.(Gln929Glu)
-/. - c.2785C>G r.(?) p.(Gln929Glu)
?/. - c.2787G>C r.(?) p.(Gln929His)
?/. - c.2830_2832del r.(?) p.(Glu944del)
./. - c.2866_2868del r.(?) p.(Lys956del)
?/. - c.3067G>C r.(?) p.(Glu1023Gln)
?/. - c.3067G>C r.(?) p.(Glu1023Gln)
-?/. - c.3091G>A r.(?) p.(Gly1031Ser)
?/. - c.3145A>G r.(?) p.(Ile1049Val)
?/. - c.3173A>G r.(?) p.(Asp1058Gly)
-?/. - c.3437C>A r.(?) p.(Thr1146Asn)
-?/. - c.3449A>G r.(?) p.(Gln1150Arg)
?/. - c.3505A>C r.(?) p.(Lys1169Gln)
-?/. - c.3541G>C r.(?) p.(Val1181Leu)
-?/. - c.3541G>C r.(?) p.(Val1181Leu)
-/. - c.3736+61_3736+62del r.(=) p.(=)
-?/. 9i c.3736+63_3736+64del r.(=) p.(=)
-?/. 9i c.3736+63_3736+64del r.(=) p.(=)
?/. - c.3880G>C r.(?) p.(Asp1294His)
-?/. - c.3913A>C r.(?) p.(Lys1305Gln)
-?/. - c.4120+6A>T r.(=) p.(=)
-?/. - c.4329G>A r.(?) p.(Glu1443=)
-/. - c.4377_4379del r.(?) p.(Glu1464del)
-/. - c.4377_4379del r.(?) p.(Glu1464del)
-?/. - c.4377_4379del r.(?) p.(Glu1464del)
-?/. - c.4377_4379del r.(?) p.(Glu1464del)
-/. - c.4635C>A r.(?) p.(Thr1545=)
?/. - c.4648G>A r.(?) p.(Val1550Met)
./. - c.4696G>T r.(?) p.(Asp1566Tyr)
+/. - c.4721G>A r.(?) p.(Cys1574Tyr)
-?/. - c.4810-42T>A r.(?) p.(=)
+?/. - c.4862C>T r.(?) p.(Thr1621Met)
-?/. - c.4957-20T>C r.(=) p.(=)
+/. - c.5137C>T r.(?) p.(Pro1713Ser)
-?/. - c.5175A>G r.(?) p.(Lys1725=)
?/. - c.5212A>G r.(?) p.(Ile1738Val)
+?/. - c.5387A>G r.(?) p.(Asp1796Gly)
?/. - c.5522C>A r.(?) p.(Ser1841Tyr)
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