Transcript #00000455

Transcript name transcript variant 1
Gene name SHROOM4 (shroom family member 4)
Chromosome X
Transcript - NCBI ID NM_020717.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_065768.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

99 entries on 1 page. Showing entries 1 - 99.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.19T>G VUS r.(?) p.(Ser7Ala)
-?/. - c.266G>A likely benign r.(?) p.(Arg89Lys)
-/. - c.266G>A benign r.(?) p.(Arg89Lys)
?/. - c.266G>A - r.(?) p.(Arg89Lys)
?/. - c.294G>A - r.(=) p.(=)
-?/. - c.404+9A>G likely benign r.(=) p.(=)
?/. 3i c.404+457C>T - - p.(=)
?/. 3i c.405-455A>G - - p.(=)
?/. 3i c.405-124C>T - - p.(=)
?/. 3i c.405-123del - - p.(=)
-?/. - c.436C>T likely benign r.(?) p.(Arg146Trp)
-?/. - c.437G>A likely benign r.(?) p.(Arg146Gln)
?/. - c.450C>T - r.(=) p.(=)
?/. - c.451G>A VUS r.(?) p.(Glu151Lys)
-?/. - c.503C>T likely benign r.(?) p.(Ala168Val)
?/. - c.630G>T VUS r.(?) p.(Glu210Asp)
-?/. - c.689G>A likely benign r.(?) p.(Arg230Gln)
-?/. - c.731A>G likely benign r.(?) p.(Asn244Ser)
-?/. - c.839G>A likely benign r.(?) p.(Arg280Gln)
?/. - c.1053C>A VUS r.(?) p.(Ser351Arg)
-?/. - c.1053C>A likely benign r.(?) p.(Ser351Arg)
-?/. - c.1068G>T likely benign r.(?) p.(Glu356Asp)
?/. - c.1135G>A - r.(?) p.(Val379Met)
?/. - c.1229A>G VUS r.(?) p.(His410Arg)
-?/. 4 c.1315G>A - r.(?) p.(Val439Ile)
-?/. - c.1315G>A likely benign r.(?) p.(Val439Ile)
-?/. - c.1358G>A likely benign r.(?) p.(Ser453Asn)
-?/. - c.1387C>A likely benign r.(?) p.(Pro463Thr)
-?/. - c.1541G>T likely benign r.(?) p.(Arg514Ile)
-?/. - c.1568C>A likely benign r.(?) p.(Ala523Asp)
-?/. - c.1675G>A likely benign r.(?) p.(Glu559Lys)
-/. - c.1879C>T benign r.(?) p.(Pro627Ser)
-?/. - c.1879C>T likely benign r.(?) p.(Pro627Ser)
?/. - c.1879C>T - r.(?) p.(Pro627Ser)
-/. - c.1972A>G benign r.(?) p.(Met658Val)
-?/. - c.1972A>G likely benign r.(?) p.(Met658Val)
?/. - c.2007C>A VUS r.(?) p.(Ser669Arg)
?/. - c.2165G>A VUS r.(?) p.(Arg722His)
-/. - c.2165G>A benign r.(?) p.(Arg722His)
-?/. - c.2165G>A likely benign r.(?) p.(Arg722His)
-/. - c.2173C>T benign r.(?) p.(His725Tyr)
-?/. - c.2180G>A likely benign r.(?) p.(Arg727Lys)
?/. - c.2181A>T VUS r.(?) p.(Arg727Ser)
-?/. - c.2192A>G likely benign r.(?) p.(Glu731Gly)
-?/. - c.2192A>G likely benign r.(?) p.(Glu731Gly)
-?/. - c.2228A>C likely benign r.(?) p.(Glu743Ala)
-?/. - c.2266G>A likely benign r.(?) p.(Ala756Thr)
-?/. - c.2339G>A likely benign r.(?) p.(Ser780Asn)
-?/. - c.2419A>G likely benign r.(?) p.(Ile807Val)
?/. - c.2669G>A - r.(?) p.(Cys890Tyr)
-?/. - c.2713T>C likely benign r.(?) p.(Ser905Pro)
?/. - c.2958-338A>G - - p.(=)
?/. - c.2958-338A>G - - p.(=)
-?/. - c.2983T>G likely benign r.(?) p.(Phe995Val)
-?/. - c.3104A>C likely benign r.(?) p.(Glu1035Ala)
-?/. - c.3141C>T likely benign r.(?) p.(=)
?/. - c.3168T>C - r.(=) p.(=)
-?/. - c.3240C>A likely benign r.(?) p.(=)
-?/. - c.3367C>G likely benign r.(?) p.(Gln1123Glu)
?/. 6 c.3373_3384dup - r.(?) p.(Gln1125_Gln1128dup)
-/. - c.3413_3414insGG benign r.(?) p.(Glu1140Lysfs*42)
-/. - c.3413_3414insGG benign r.(?) p.(Glu1140Lysfs*42)
-?/. - c.3415dup likely benign r.(?) p.(Glu1139Glyfs*39)
-?/. - c.3415dup likely benign r.(?) p.(Glu1139Glyfs*39)
-/. - c.3415dup benign r.(?) p.(Glu1139Glyfs*39)
-/. - c.3415dup benign r.(?) p.(Glu1139Glyfs*39)
?/. - c.3416_3417insGGA VUS r.(?) p.(Glu1151dup)
-?/. - c.3417A>G likely benign r.(?) p.(=)
?/. - c.3426_3428del VUS r.(?) p.(Glu1151del)
?/. - c.3468A>G - r.(=) p.(=)
-/. - c.3468_3470del benign r.(?) p.(Glu1158del)
-?/. - c.3504C>T likely benign r.(?) p.(=)
-?/. - c.3611A>G likely benign r.(?) p.(Glu1204Gly)
-?/. - c.3734C>T likely benign r.(?) p.(Ser1245Leu)
?/. - c.3762-318G>A - - p.(=)
?/. - c.3762-318G>A - - p.(=)
-?/. - c.3899G>A likely benign r.(?) p.(Gly1300Asp)
?/. - c.3919G>A VUS r.(?) p.(Asp1307Asn)
?/. - c.3943-140C>G - - p.(=)
?/. - c.3943-140C>G - - p.(=)
?/. - c.3943-63C>T - - p.(=)
?/. - c.3943-63C>T - - p.(=)
-?/. - c.3944T>C likely benign r.(?) p.(Ile1315Thr)
-?/. - c.3944T>C likely benign r.(?) p.(Ile1315Thr)
-?/. - c.3944T>C likely benign r.(?) p.(Ile1315Thr)
?/. - c.3988G>A - r.(?) p.(Glu1330Lys)
-/. - c.4066G>A benign r.(?) p.(Val1356Ile)
?/. - c.4101G>T - r.(?) p.(Leu1367Phe)
-?/. - c.4101G>T likely benign r.(?) p.(Leu1367Phe)
-/. - c.4101G>T benign r.(?) p.(Leu1367Phe)
-?/. - c.4114C>T likely benign r.(?) p.(=)
-?/. - c.4130A>C likely benign r.(?) p.(Asn1377Thr)
-?/. - c.4278G>A likely benign r.(?) p.(=)
?/. - c.*3159dup - - p.(=)
?/. - c.*3159dup - - p.(=)
?/. - c.*3165_*3166insG - - p.(=)
?/. - c.*3165_*3166insG - - p.(=)
?/. - c.*3673T>A - - p.(=)
?/. - c.*3673T>A - - p.(=)
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