Transcript #00024003 (NM_001164507.1, NEB gene)

Transcript name transcript variant 1
Gene name NEB (nebulin)
Chromosome 2
Transcript - NCBI ID NM_001164507.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001157979.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

553 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
?/. - c.6A>T - r.(?) p.(Ala2=)
+/. - c.78+1G>A - r.spl p.?
?/. - c.153_167dup - r.(?) p.(Leu57_Ala61dup)
-?/. - c.255C>T - r.(?) p.(Tyr85=)
-/. - c.294+52T>G - r.(=) p.(=)
?/. - c.355A>G - r.(?) p.(Thr119Ala)
?/. - c.355A>G - r.(?) p.(Thr119Ala)
+/. - c.412C>T - r.(?) p.(Arg138Ter)
?/. - c.426T>A - r.(?) p.(Asp142Glu)
+/. - c.445del - r.(?) p.(His149Thrfs*2)
-/. - c.571G>C - r.(?) p.(Glu191Gln)
-?/. - c.571G>C - r.(?) p.(Glu191Gln)
-/. - c.612+8T>C - r.(=) p.(=)
-?/. - c.612+8T>C - r.(=) p.(=)
-/. - c.612+15C>T - r.(=) p.(=)
?/. - c.725A>G - r.(?) p.(Tyr242Cys)
-?/. - c.756A>G - r.(?) p.(Gln252=)
-/. - c.771T>C - r.(?) p.(Ala257=)
-/. - c.771T>C - r.(=) p.(=)
-/. - c.771T>C - r.(?) p.(Ala257=)
?/. - c.780A>G - r.(?) p.(Pro260=)
-/. - c.822+25_822+27dup - r.(=) p.(=)
?/. - c.914A>G - r.(?) p.(Asp305Gly)
-?/. - c.1022T>A - r.(?) p.(Val341Glu)
-?/. - c.1098T>C - r.(?) p.(Ala366=)
-?/. - c.1190A>G - r.(?) p.(Lys397Arg)
+/. 13i_89i c.(1257+1_1258-1)_(13788+1_13789-1)del - r.? p.?
+/. - c.1266T>A - r.(?) p.(Tyr422Ter)
?/. - c.1402A>G - r.(?) p.(Lys468Glu)
-/. - c.1413C>T - r.(?) p.(Phe471=)
-?/. - c.1544A>G - r.(?) p.(Gln515Arg)
?/. - c.1619C>G - r.(?) p.(Pro540Arg)
+/. - c.1623del - r.(?) p.(Asp542IlefsTer15)
-/. - c.1674+30T>G - r.(=) p.(=)
-/. - c.1675-67C>T - r.(=) p.(=)
-?/. - c.1779C>T - r.(?) p.(Ser593=)
?/. - c.1899A>T - r.(?) p.(Arg633Ser)
?/. - c.1911A>T - r.(?) p.(Glu637Asp)
+?/. - c.2211+5G>A - r.spl? p.?
+?/. - c.2211+5G>C - r.spl? p.?
?/. - c.2234A>G - r.(?) p.(Asp745Gly)
?/. - c.2264C>T - r.(?) p.(Ser755Phe)
-?/. - c.2318A>G - r.(?) p.(Tyr773Cys)
-?/. - c.2318A>G - r.(?) p.(Tyr773Cys)
?/. - c.2378T>C - r.(?) p.(Phe793Ser)
+/. - c.2415+1G>A - r.spl? p.?
-?/. - c.2510A>G - r.(?) p.(Lys837Arg)
?/. - c.2510A>G - r.(?) p.(Lys837Arg)
-?/. - c.2540A>G - r.(?) p.(Asp847Gly)
?/. - c.2573C>T - r.(?) p.(Ala858Val)
-/. - c.2603T>C - r.(?) p.(Leu868Pro)
-?/. - c.2603T>C - r.(?) p.(Leu868Pro)
?/. - c.2637+3G>C - r.spl? p.?
?/. - c.2771A>C - r.(?) p.(Tyr924Ser)
+/. - c.2784del - r.(?) p.(Asp929IlefsTer28)
+/. - c.2864G>A - r.(?) p.(Trp955*)
+/. - c.2920C>T - r.(?) p.(Arg974*)
-/. - c.3081A>T - r.(?) p.(Lys1027Asn)
-/. - c.3081A>T - r.(?) p.(Lys1027Asn)
-?/. - c.3094C>T - r.(?) p.(Pro1032Ser)
-/. - c.3147+5G>A - r.spl? p.?
-/. - c.3147+5G>A - r.spl? p.?
-?/. - c.3147+5G>A - r.spl? p.?
-?/. - c.3147+11G>A - r.(=) p.(=)
-?/. - c.3191A>G - r.(?) p.(Tyr1064Cys)
-/. - c.3191A>G - r.(?) p.(Tyr1064Cys)
-?/. - c.3191A>G - r.(?) p.(Tyr1064Cys)
-?/. - c.3248C>T - r.(?) p.(Ala1083Val)
+/. - c.3255+1G>A - r.spl? p.?
+/. - c.3255+1G>C - r.spl? p.?
+/. - c.3338del - r.(?) p.(His1113LeufsTer3)
-?/. - c.3412A>G - r.(?) p.(Asn1138Asp)
-?/. - c.3412A>G - r.(?) p.(Asn1138Asp)
-?/. - c.3443C>T - r.(?) p.(Ala1148Val)
-?/. - c.3444G>A - r.(?) p.(Ala1148=)
?/. - c.3481T>C - r.(?) p.(Tyr1161His)
+/. - c.3483T>G - r.(?) p.(Tyr1161Ter)
?/. - c.3527A>G - r.(?) p.(Asp1176Gly)
-?/. - c.3593A>G - r.(?) p.(Asn1198Ser)
-?/. - c.3593A>G - r.(?) p.(Asn1198Ser)
-?/. - c.3593A>G - r.(?) p.(Asn1198Ser)
?/. - c.3616A>G - r.(?) p.(Ile1206Val)
-?/. - c.3623T>C - r.(?) p.(Ile1208Thr)
-?/. - c.3636C>T - r.(?) p.(Asp1212=)
-?/. - c.3637G>A - r.(?) p.(Val1213Ile)
-?/. - c.3637G>A - r.(?) p.(Val1213Ile)
?/. - c.3716G>T - r.(?) p.(Ser1239Ile)
?/. - c.3724G>C - r.(?) p.(Asp1242His)
-?/. - c.3801T>C - r.(?) p.(Asp1267=)
-/. - c.3879+20G>T - r.(=) p.(=)
-/. - c.3879+20G>T - r.(=) p.(=)
-?/. - c.3892C>A - r.(?) p.(Arg1298=)
-/. - c.3901= - r.(=) p.(His1301=)
?/. - c.3986A>C - r.(?) p.(Asp1329Ala)
+/. - c.3987+1G>A - r.spl? p.?
+?/. - c.3987+1G>A - r.spl? p.?
-?/. - c.4060A>G - r.(?) p.(Lys1354Glu)
-?/. - c.4272G>C - r.(?) p.(Thr1424=)
-?/. - c.4272G>C - r.(?) p.(Thr1424=)
-?/. - c.4407G>C - r.(?) p.(Glu1469Asp)
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