Transcript #00000669 (NM_000377.2, WAS gene)

Transcript name Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Gene name WAS (Wiskott-Aldrich syndrome)
Chromosome X
Transcript - NCBI ID NM_000377.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000368.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

63 entries on 1 page. Showing entries 1 - 63.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.5G>C r.(?) p.(Ser2Thr)
?/. - c.7G>A r.(?) p.(Gly3Arg)
+?/. - c.71C>A r.(?) p.(Ser24Tyr)
-?/. - c.90C>T r.(?) p.(His30=)
+/. - c.100C>T r.(?) p.(Arg34Ter)
+/. - c.104T>A r.(?) p.(Leu35His)
+/. - c.142A>G r.(?) p.(Thr48Ala)
-?/. - c.150T>A r.(?) p.(Val50=)
?/. - c.197A>G r.(?) p.(Lys66Arg)
-?/. - c.216G>A r.(?) p.(Val72=)
+/. - c.223G>A r.(?) p.(Val75Met)
?/. - c.257G>A r.(?) p.(Arg86His)
-?/. - c.264C>T r.(?) p.(Tyr88=)
-?/. - c.264C>T r.(?) p.(Tyr88=)
-/. - c.273+10_273+11dup r.(=) p.(=)
-?/. - c.273+10_273+11dup r.(=) p.(=)
-?/. - c.273+11dup r.(=) p.(=)
-/. - c.273+11dup r.(=) p.(=)
?/. - c.273+12A>C r.(=) p.(=)
?/. - c.274-3C>T r.spl? p.?
?/. - c.391G>A r.(?) p.(Glu131Lys)
-?/. - c.391G>A r.(?) p.(Glu131Lys)
-?/. - c.396C>T r.(?) p.(Asp132=)
-?/. - c.413G>A r.(?) p.(Arg138Gln)
-?/. - c.420C>T r.(?) p.(Leu140=)
-?/. - c.469C>A r.(?) p.(Arg157Ser)
-?/. - c.490A>C r.(?) p.(Thr164Pro)
-?/. - c.538C>A r.(?) p.(His180Asn)
?/. - c.538C>A r.(?) p.(His180Asn)
-?/. - c.538C>A r.(?) p.(His180Asn)
?/. - c.548G>A r.(?) p.(Gly183Glu)
?/. - c.559+5G>A r.spl? p.?
?/. - c.559+127A>G r.(=) p.(=)
?/. - c.559+127A>G r.(=) p.(=)
+?/. - c.706G>A r.(?) p.(Ala236Thr)
?/. - c.712A>G r.(?) p.(Ile238Val)
-?/. - c.778-11C>T r.(=) p.(=)
+/. - c.778-2A>G r.spl? p.?
?/. 9 c.820G>A r.(?) p.(Ala274Thr)
-?/. - c.850G>A r.(?) p.(Ala284Thr)
-/. - c.925C>T r.(?) p.(Arg309Cys)
-?/. - c.995T>C r.(?) p.(Val332Ala)
?/. - c.995T>C r.(?) p.(Val332Ala)
-?/. - c.1049C>T r.(?) p.(Ala350Val)
+/. - c.1058del r.(?) p.(Pro353HisfsTer92)
-?/. - c.1190C>T r.(?) p.(Pro397Leu)
?/. - c.1200G>A r.(?) p.(Pro400=)
-?/. - c.1219G>A r.(?) p.(Gly407Arg)
-?/. - c.1280C>T r.(?) p.(Pro427Leu)
-/. - c.1299G>A r.(?) p.(Ala433=)
?/. - c.1338+1G>A r.spl? p.?
-/. - c.1378C>T r.(?) p.(Pro460Ser)
-/. - c.1378C>T r.(?) p.(Pro460Ser)
-?/. - c.1378C>T r.(?) p.(Pro460Ser)
-?/. - c.1453+16C>T r.(=) p.(=)
?/. - c.1453+268C>T r.(=) p.(=)
?/. - c.1453+268C>T r.(=) p.(=)
-?/. - c.1455C>T r.(?) p.(Asp485=)
?/. - c.1466A>G r.(?) p.(Asp489Gly)
?/. - c.1466A>G r.(?) p.(Asp489Gly)
-?/. - c.1466A>G r.(?) p.(Asp489Gly)
?/. - c.1490A>G r.(?) p.(Asp497Gly)
-?/. - c.1508G>A r.(?) p.(Ter503=)
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