Transcript #00024006

Transcript name transcript variant 1
Gene name AHI1 (Abelson helper integration site 1)
Chromosome 6
Transcript - NCBI ID NM_001134831.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001128303.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-378G>T benign r.(?) p.(=)
-?/. - c.-54-6C>T likely benign r.(=) p.(=)
?/. - c.-30C>A VUS r.(?) p.(=)
-/. - c.72T>C benign r.(?) p.(=)
+/. - c.96dup pathogenic r.(?) p.(Leu33Thrfs*9)
-?/. - c.108A>G likely benign r.(?) p.(=)
-?/. - c.189+12T>C likely benign r.(=) p.(=)
?/. - c.190C>A VUS r.(?) p.(Pro64Thr)
-/. - c.198T>C benign r.(?) p.(=)
-/. - c.517G>A benign r.(?) p.(Ala173Thr)
-/. - c.517G>A benign r.(?) p.(Ala173Thr)
?/. - c.553G>T VUS r.(?) p.(Asp185Tyr)
-?/. - c.708A>G likely benign r.(?) p.(=)
-/. - c.724C>T benign r.(?) p.(Pro242Ser)
-/. - c.724C>T benign r.(?) p.(Pro242Ser)
-?/. - c.804A>C likely benign r.(?) p.(=)
?/. - c.868G>A VUS r.(?) p.(Glu290Lys)
-/. - c.901C>A benign r.(?) p.(Pro301Thr)
+?/. 8 c.911_912dup - r.(?) p.(Lys305Glnfs*23)
+?/. 8 c.911_912dup - r.(?) p.(Lys305Glnfs*23)
-/. - c.932-13dup benign r.(=) p.(=)
+?/. 9 c.985C>T - r.(?) p.(Arg329*)
-?/. - c.986G>T likely benign r.(?) p.(Arg329Leu)
?/. 9 c.989A>G - r.(?) p.(Asp330Gly)
?/. - c.989A>G VUS r.(?) p.(Asp330Gly)
-?/. - c.990T>C likely benign r.(?) p.(=)
-?/. - c.990T>C likely benign r.(?) p.(=)
+/. - c.1051C>T pathogenic r.(?) p.(Arg351Ter)
?/. - c.1093A>C VUS r.(?) p.(Met365Leu)
?/. - c.1145A>G VUS r.(?) p.(Asp382Gly)
-/. - c.1152-7dup benign r.(=) p.(=)
+?/. 10 c.1303C>T - r.(?) p.(Arg435*)
-?/. - c.1304G>A likely benign r.(?) p.(Arg435Gln)
+/. 10 c.1328T>A - r.(?) p.(Val443Asp)
+/. 10 c.1328T>A - r.(?) p.(Val443Asp)
-/. - c.1344+17_1344+54del benign r.(=) p.(=)
-?/. - c.1405T>C likely benign r.(?) p.(Cys469Arg)
?/. - c.1546G>A VUS r.(?) p.(Glu516Lys)
?/. - c.1594G>A VUS r.(?) p.(Val532Ile)
-/. - c.1627-92T>A benign r.(=) p.(=)
-/. - c.1627-9C>G benign r.(=) p.(=)
-?/. - c.1643G>A likely benign r.(?) p.(Arg548His)
-?/. - c.1643G>A likely benign r.(?) p.(Arg548His)
-/. - c.1680A>G benign r.(?) p.(=)
-/. - c.1686T>C benign r.(?) p.(=)
?/. - c.1694G>A VUS r.(?) p.(Arg565His)
-?/. - c.1725A>G likely benign r.(?) p.(=)
-/. - c.1780-14C>T benign r.(=) p.(=)
-/. - c.1780-14C>T benign r.(=) p.(=)
-/. - c.1780-14C>T benign r.(=) p.(=)
-?/. - c.1788T>C likely benign r.(?) p.(=)
-/. - c.1791C>T benign r.(?) p.(=)
-/. - c.1791C>T benign r.(?) p.(=)
?/. - c.1799A>G VUS r.(?) p.(Lys600Arg)
?/. - c.1829G>A VUS r.(?) p.(Arg610Gln)
+/. 15 c.1983del - r.(?) p.(Trp662Glyfs*24)
-/. - c.2036+96G>A benign r.(=) p.(=)
-/. - c.2037-109G>A benign r.(=) p.(=)
+?/. 16 c.2057_2060del - r.(?) p.(Asn686Ilefs*23)
+?/. - c.2168G>A likely pathogenic r.(?) p.(Arg723Gln)
+/. - c.2174G>A pathogenic r.(?) p.(Trp725*)
+/. - c.2174G>A pathogenic r.(?) p.(Trp725*)
+/. - c.2174G>A pathogenic r.(?) p.(Trp725*)
+/. - c.2174G>A pathogenic r.(?) p.(Trp725*)
+/. 16 c.2174G>A - r.(?) p.(Trp725*)
+/. 16 c.2174G>A pathogenic (recessive) r.(?) p.(Trp725*)
+/. 15 c.2212C>T - r.(?) p.(Arg738*)
-/. - c.2223T>C benign r.(?) p.(=)
-/. - c.2223T>C benign r.(?) p.(=)
+?/. 16 c.2248_2249insA - r.(?) p.(Leu750Hisfs*4)
+?/. - c.2258A>T likely pathogenic r.(?) p.(Asp753Val)
+?/. 16 c.2258A>T - r.(?) p.(Asp753Val)
?/. - c.2266G>T VUS r.(?) p.(Gly756Cys)
-/. - c.2266+9G>A benign r.(=) p.(=)
-/. - c.2266+152A>G benign r.(=) p.(=)
-?/. - c.2294C>T likely benign r.(?) p.(Thr765Ile)
-?/. - c.2350G>T likely benign r.(?) p.(Val784Leu)
-?/. - c.2373+18A>G likely benign r.(=) p.(=)
-/. - c.2374-7A>G benign r.(=) p.(=)
?/. - c.2441G>A VUS r.(?) p.(Arg814His)
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp)
-/. - c.2488C>T benign r.(?) p.(Arg830Trp)
?/. - c.2488C>T VUS r.(?) p.(Arg830Trp)
-?/. - c.2488C>T likely benign r.(?) p.(Arg830Trp)
-/. - c.2488C>T benign r.(?) p.(Arg830Trp)
+/. 19 c.2495del - r.(?) p.(Leu832*)
-?/. - c.2504G>C likely benign r.(?) p.(Arg835Thr)
-/. - c.2505G>A benign r.(?) p.(=)
-?/. - c.2505G>A likely benign r.(?) p.(=)
-/. - c.2624-6A>G benign r.(=) p.(=)
-/. - c.2624-6A>G benign r.(=) p.(=)
-?/. - c.2624-6A>G likely benign r.(=) p.(=)
?/. - c.2660A>G VUS r.(?) p.(Lys887Arg)
?/. - c.2660A>G VUS r.(?) p.(Lys887Arg)
?/. - c.2660A>G VUS r.(?) p.(Lys887Arg)
-?/. - c.2794C>T likely benign r.(?) p.(Arg932Cys)
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