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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-14G>A benign r.(?) p.(=)
+/. - c.109C>T pathogenic r.(?) p.(Arg37*)
-?/. - c.189+7A>G likely benign r.(=) p.(=)
-/. - c.228G>A benign r.(?) p.(=)
-/. - c.228G>A benign r.(?) p.(=)
?/. - c.317A>T VUS r.(?) p.(Asp106Val)
+/. 7 c.533T>A - r.(?) p.(Val178Asp)
+?/. - c.536A>G likely pathogenic r.(?) p.(Asn179Ser)
+?/. - c.567C>G likely pathogenic r.(?) p.(His189Gln)
+?/. - c.734T>A likely pathogenic r.(?) p.(Leu245Gln)
+/. - c.736C>T pathogenic r.(?) p.(Arg246Cys)
+/. - c.736C>T pathogenic r.(?) p.(Arg246Cys)
+/. - c.797A>G pathogenic r.(?) p.(Tyr266Cys)
-?/. - c.846C>T likely benign r.(?) p.(=)
-?/. - c.1157C>T likely benign r.(?) p.(Ala386Val)
-?/. - c.1287C>G likely benign r.(?) p.(=)
-?/. - c.1303A>G likely benign r.(?) p.(Ile435Val)
?/. - c.1366G>T VUS r.(?) p.(Asp456Tyr)
?/. - c.1423C>G VUS r.(?) p.(His475Asp)
-?/. - c.1633C>G likely benign r.(?) p.(Gln545Glu)
-?/. - c.1633C>G likely benign r.(?) p.(Gln545Glu)
+/. 9 c.1676C>T - r.(?) p.(Ser559Leu)
+/. 9 c.1679C>G - r.(?) p.(Ser560Cys)
+/. - c.1727C>A pathogenic r.(?) p.(Ser576*)
-?/. - c.1727C>T likely benign r.(?) p.(Ser576Leu)
?/. - c.1729A>G VUS r.(?) p.(Lys577Glu)
-?/. - c.1880G>A likely benign r.(?) p.(Cys627Tyr)
?/. - c.2000C>T VUS r.(?) p.(Pro667Leu)
-?/. - c.2000C>T likely benign r.(?) p.(Pro667Leu)
-?/. - c.2001G>A likely benign r.(?) p.(=)
-?/. - c.2021C>T likely benign r.(?) p.(Thr674Ile)
-?/. - c.2117G>C likely benign r.(?) p.(Ser706Thr)
-?/. - c.2169G>C likely benign r.(?) p.(Glu723Asp)
-?/. - c.2273A>G likely benign r.(?) p.(His758Arg)
-?/. - c.2325T>C likely benign r.(?) p.(=)
-?/. - c.2544C>T likely benign r.(?) p.(=)
-/. - c.2595C>G benign r.(?) p.(His865Gln)
-?/. - c.2595C>G likely benign r.(?) p.(His865Gln)
-/. - c.2595C>G benign r.(?) p.(His865Gln)
?/. - c.2648A>G VUS r.(?) p.(Gln883Arg)
-?/. - c.2648A>G likely benign r.(?) p.(Gln883Arg)
-?/. - c.2652G>C likely benign r.(?) p.(Glu884Asp)
?/. - c.2658G>C VUS r.(?) p.(Glu886Asp)
-?/. - c.2658G>C likely benign r.(?) p.(Glu886Asp)
-?/. - c.2701A>G likely benign r.(?) p.(Ile901Val)
-?/. - c.2720G>A likely benign r.(?) p.(Arg907Gln)
-?/. - c.2744G>C likely benign r.(?) p.(Ser915Thr)
-/. - c.2785C>G benign r.(?) p.(Gln929Glu)
-/. - c.2785C>G benign r.(?) p.(Gln929Glu)
?/. - c.2787G>C VUS r.(?) p.(Gln929His)
?/. - c.2830_2832del VUS r.(?) p.(Glu944del)
./. - c.2863_2865del - r.(?) p.(Lys956del)
?/. - c.3067G>C VUS r.(?) p.(Glu1023Gln)
?/. - c.3067G>C VUS r.(?) p.(Glu1023Gln)
-?/. - c.3091G>A likely benign r.(?) p.(Gly1031Ser)
?/. - c.3145A>G VUS r.(?) p.(Ile1049Val)
?/. - c.3173A>G VUS r.(?) p.(Asp1058Gly)
-?/. - c.3449A>G likely benign r.(?) p.(Gln1150Arg)
?/. - c.3505A>C VUS r.(?) p.(Lys1169Gln)
-?/. - c.3541G>C likely benign r.(?) p.(Val1181Leu)
-?/. - c.3541G>C likely benign r.(?) p.(Val1181Leu)
-/. - c.3736+61_3736+62del benign r.(=) p.(=)
-?/. 9i c.3736+62_3736+63del - r.(?) p.(=)
-?/. 9i c.3736+62_3736+63del - r.(?) p.(=)
?/. - c.3880G>C VUS r.(?) p.(Asp1294His)
-?/. - c.3913A>C likely benign r.(?) p.(Lys1305Gln)
-?/. - c.4120+6A>T likely benign r.(=) p.(=)
-?/. - c.4329G>A likely benign r.(?) p.(=)
-/. - c.4377_4379del benign r.(?) p.(Glu1464del)
-/. - c.4377_4379del benign r.(?) p.(Glu1464del)
-?/. - c.4377_4379del likely benign r.(?) p.(Glu1464del)
-/. - c.4635C>A benign r.(?) p.(=)
?/. - c.4648G>A VUS r.(?) p.(Val1550Met)
./. - c.4696G>T - r.(?) p.(Asp1566Tyr)
+/. - c.4721G>A pathogenic r.(?) p.(Cys1574Tyr)
-?/. - c.4810-42T>A likely benign r.(?) p.(=)
+?/. - c.4862C>T likely pathogenic r.(?) p.(Thr1621Met)
-?/. - c.4957-20T>C likely benign r.(=) p.(=)
+/. - c.5137C>T pathogenic r.(?) p.(Pro1713Ser)
-?/. - c.5175A>G likely benign r.(?) p.(=)
?/. - c.5212A>G - r.(?) p.(Ile1738Val)
+?/. - c.5387A>G likely pathogenic r.(?) p.(Asp1796Gly)
?/. - c.5522C>A VUS r.(?) p.(Ser1841Tyr)
?/. - c.5566+5A>C VUS r.spl? p.?
-/. - c.5579A>G benign r.(?) p.(Asn1860Ser)
-/. - c.5579A>G benign r.(?) p.(Asn1860Ser)
-?/. - c.5579A>G likely benign r.(?) p.(Asn1860Ser)
-?/. - c.5579A>G likely benign r.(?) p.(Asn1860Ser)
-?/. - c.5579A>G likely benign r.(?) p.(Asn1860Ser)
+?/. - c.5666T>G likely pathogenic r.(?) p.(Leu1889Trp)
-?/. - c.5786A>G likely benign r.(?) p.(Lys1929Arg)
-?/. - c.5787-20G>T likely benign r.(=) p.(=)
-?/. - c.5787-8_5787-5del likely benign r.spl? p.?
-?/. - c.5787-8_5787-5del likely benign r.spl? p.?
-?/. - c.5787-8_5787-5del likely benign r.spl? p.?
+/. - c.5957-1G>A pathogenic r.spl? p.?
?/. - c.5968T>A VUS r.(?) p.(Ser1990Thr)
-?/. - c.5968T>A likely benign r.(?) p.(Ser1990Thr)
-?/. - c.5974_5976del likely benign r.(?) p.(Ser1992del)
+?/? 28 c.6244G>A - r.(?) p.(Asp2082Asn)
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