Transcript #00023946

Transcript name transcript variant 1
Gene name IQSEC2 (IQ motif and Sec7 domain 2)
Chromosome X
Transcript - NCBI ID NM_001111125.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001104595.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. - c.3G>A likely pathogenic (dominant) r.(?) p.?
?/. - c.32C>T VUS r.(?) p.(Pro11Leu)
+/. - c.169G>T pathogenic (dominant) r.(?) p.(Glu57*)
-?/. - c.188A>G likely benign r.(?) p.(Glu63Gly)
?/. - c.188A>G VUS r.(?) p.(Glu63Gly)
+/. - c.211G>T pathogenic (dominant) r.(?) p.(Glu71*)
-?/. - c.241G>A likely benign r.(?) p.(Asp81Asn)
?/. - c.343G>T VUS r.(?) p.(Gly115Cys)
-?/. - c.431C>T likely benign r.(?) p.(Thr144Ile)
-?/. - c.435C>T likely benign r.(?) p.(=)
-?/. - c.435C>T likely benign r.(?) p.(=)
-?/. - c.435C>T likely benign r.(?) p.(=)
-/. - c.477G>A benign r.(?) p.(=)
-?/. - c.494C>T likely benign r.(?) p.(Ala165Val)
-?/. - c.505G>C likely benign r.(?) p.(Glu169Gln)
?/. - c.560G>A VUS r.(?) p.(Gly187Asp)
?/. - c.560G>A VUS r.(?) p.(Gly187Asp)
+/+ 1 c.566C>A pathogenic (dominant) r.(?) p.(Ser189*)
?/. - c.578G>C VUS r.(?) p.(Gly193Ala)
-?/. - c.578G>C likely benign r.(?) p.(Gly193Ala)
-?/. - c.669C>T likely benign r.(?) p.(=)
-/. - c.708-98T>A benign r.(=) p.(=)
+/. 2i c.737+2714_737+2715ins(62000) pathogenic (dominant) r.spl p.(?)
-/. - c.738-10984_738-10982del benign r.(=) p.(=)
+/. - c.738-1G>C pathogenic (dominant) r.spl? p.?
+/. - c.928G>T pathogenic (dominant) r.(?) p.(Glu310*)
-?/. 3i c.999+341G>A likely benign r.(=) p.(=)
+/. 4 c.1075C>T pathogenic (dominant) r.(?) p.(Arg359Cys)
-/. - c.1210G>A benign r.(?) p.(Ala404Thr)
+/. - c.1399C>T pathogenic (dominant) r.(?) p.(Gln467*)
-?/. 4i c.1401+200del likely benign r.(=) p.(=)
-?/. 4i c.1402-65C>T likely benign r.(=) p.(=)
-?/. 4i c.1402-65C>T likely benign r.(=) p.(=)
-?/. - c.1402-9dup likely benign r.(=) p.(=)
?/. - c.1417G>A VUS r.(?) p.(Glu473Lys)
-?/. - c.1485G>T likely benign r.(?) p.(Gln495His)
+/. - c.1510del pathogenic (dominant) r.(?) p.(Gln504Serfs*103)
-?/. - c.1625G>A likely benign r.(?) p.(Arg542Gln)
+/. - c.1800dup pathogenic (dominant) r.(?) p.(Asp601*)
+?/. 5 c.1813_1814del pathogenic (dominant) r.(?) p.(Asp605Profs*3)
+?/. 5 c.1813_1814del pathogenic r.(?) p.(Asp605Profs*3)
+/. - c.1859del pathogenic (dominant) r.(?) p.(Val620Glyfs*13)
-?/. - c.2139C>T likely benign r.(?) p.(=)
+/. 5 c.2203C>T pathogenic (dominant) r.(?) p.(Gln735*)
+/. - c.2272C>T pathogenic (dominant) r.(?) p.(Arg758*)
+/. 5 c.2273G>A pathogenic (dominant) r.(?) p.(Arg758Gln)
+?/. - c.2278G>A likely pathogenic (dominant) r.(?) p.(Gly760Ser)
+?/. - c.2278G>A likely pathogenic (dominant) r.(?) p.(Gly760Ser)
-/. - c.2297+14G>A benign r.(=) p.(=)
-?/. 5i c.2297+228C>G likely benign r.(=) p.(=)
-?/. 5i c.2297+228C>G likely benign r.(=) p.(=)
-?/. 5i c.2298-258A>G likely benign r.(=) p.(=)
-?/. 5i c.2298-258A>G likely benign r.(=) p.(=)
+/. - c.2298-2A>G pathogenic (dominant) r.spl? p.?
-?/. - c.2322T>C likely benign r.(?) p.(=)
?/. - c.2377C>A VUS r.(?) p.(Leu793Met)
+/. 6 c.2402A>C pathogenic (dominant) r.(?) p.(Gln801Pro)
-/. - c.2481C>T benign r.(?) p.(=)
?/. - c.2507C>T VUS r.(?) p.(Ala836Val)
?/. - c.2507C>T VUS r.(?) p.(Ala836Val)
+?/. - c.2507C>T likely pathogenic (dominant) r.(?) p.(Ala836Val)
-?/. - c.2508G>A likely benign r.(?) p.(=)
?/. - c.2534G>A VUS r.(?) p.(Arg845Gln)
+?/. - c.2534G>A likely pathogenic (dominant) r.(?) p.(Arg845Gln)
?/. - c.2549C>A VUS r.(?) p.(Ala850Asp)
-?/. - c.2571C>A likely benign r.(?) p.(=)
+/. 8 c.2587C>T pathogenic (dominant) r.(?) p.(Arg863Trp)
+/? 8 c.2662dup pathogenic (dominant) r.(?) p.(Ile888Asnfs*16)
+?/+? 8 c.2679_2680insA likely pathogenic (dominant) r.(?) p.(Asp894Argfs*10)
+/. - c.2710C>T pathogenic (dominant) r.(?) p.(Arg904*)
-?/. - c.2750-19_2750-8del likely benign r.(=) p.(=)
-?/. - c.2831A>G likely benign r.(?) p.(Asn944Ser)
-?/. 9i c.2890-56A>C likely benign r.(=) p.(=)
-?/. 9i c.2890-56A>C likely benign r.(=) p.(=)
?/. - c.3015+4T>G VUS r.spl? p.?
-?/. - c.3015+9A>G likely benign r.(=) p.(=)
-?/. - c.3015+9A>G likely benign r.(=) p.(=)
./. - c.3034A>G - r.(?) p.(Lys1012Glu)
-?/. - c.3082G>A likely benign r.(?) p.(Val1028Met)
?/. - c.3082G>A VUS r.(?) p.(Val1028Met)
+/. 11i c.3116-3_3116-2del pathogenic (dominant) r.3116_3194del p.Tyr1039Serfs*37
+?/? 12 c.3163C>T likely pathogenic (dominant) r.(?) p.(Arg1055*)
+/. - c.3163C>T pathogenic (dominant) r.(?) p.(Arg1055*)
-?/. - c.3274G>C likely benign r.(?) p.(Glu1092Gln)
-?/. 12i c.3278-158A>G likely benign r.(=) p.(=)
-?/. 12i c.3278-158A>G likely benign r.(=) p.(=)
+/. - c.3278C>A pathogenic (dominant) r.(?) p.(Ser1093*)
-/. - c.3307C>T benign r.(?) p.(Arg1103Trp)
-?/. - c.3316G>A likely benign r.(?) p.(Ala1106Thr)
+/. - c.3320C>G pathogenic (dominant) r.(?) p.(Ser1107*)
-?/. - c.3364C>T likely benign r.(?) p.(Arg1122Cys)
+/. 14 c.3364C>T pathogenic (dominant) r.(?) p.(Arg1122Cys)
+/. - c.3387C>A pathogenic (dominant) r.(?) p.(Tyr1129*)
-?/. - c.3387C>T likely benign r.(?) p.(=)
+/. - c.3478G>T pathogenic (dominant) r.(?) p.(Gly1160*)
-?/. - c.3541C>T likely benign r.(?) p.(Pro1181Ser)
-?/. - c.3541C>T likely benign r.(?) p.(Pro1181Ser)
-?/. - c.3555A>C likely benign r.(?) p.(=)
-?/. - c.3735C>T likely benign r.(?) p.(=)
-?/. - c.3735_3737del likely benign r.(?) p.(His1247del)
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