Transcript #00023994 (NM_001271208.1, NEB gene)

Transcript name transcript variant 4
Gene name NEB (nebulin)
Chromosome 2
Transcript - NCBI ID NM_001271208.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001258137.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

917 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
+/. _1_24i c.(-17852_-203)_(2310+1_2311-1)del - r.0? p.0?
+/. _1_51i c.(-17852_-203)_(6807+1_6808-1)del - r.0? p.0?
+/. _1_81i c.(?_-203)_(12330+529_12331-408)dup - r.? p.?
+?/. 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.?
+?/. 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.?
+?/. 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.?
?/. - c.6A>T - r.(?) p.(Ala2=)
+/. 3 c.8A>G - r.(?) p.(Asp3Gly)
+/. 3i c.36+2dup - r.-29_36del p.0?
+/. 4i c.78+1G>A - r.spl p.?
+/. 4i c.78+1G>A - r.spl p.?
+/. 4i c.78+1G>A - r.spl p.?
+/. 4i c.78+1G>A - r.37_78del p.Tyr13_Glu26del
+/. - c.78+1G>A - r.spl p.?
?/. - c.153_167dup - r.(?) p.(Leu57_Ala61dup)
?/. 5 c.169_183del - r.(?) p.(Leu57_Ala61del)
+?/. 5 c.169_183del - r.(?) p.(Leu57_Ala61del)
-?/. - c.255C>T - r.(?) p.(Tyr85=)
+/. 5i c.294+1G>A - r.spl p.?
+/. 5i c.294+2T>C - r.spl p.?
+/. 6 c.300dup - r.0 p.0
?/. - c.355A>G - r.(?) p.(Thr119Ala)
?/. - c.355A>G - r.(?) p.(Thr119Ala)
+/. 7 c.410A>G - r.(?) p.(Tyr137Cys)
+/. 7 c.412C>T - r.(?) p.(Arg138*)
+/. - c.412C>T - r.(?) p.(Arg138Ter)
?/. - c.426T>A - r.(?) p.(Asp142Glu)
+/. - c.445del - r.(?) p.(His149Thrfs*2)
+/. 7 c.471del - r.(?) p.(Ile157Metfs*71)
+/+ 7i c.508-7T>A TRI2 r.spl p.(Val170fs)
+/. 8 c.549C>A - r.(?) p.(Tyr183*)
-/. - c.571G>C - r.(?) p.(Glu191Gln)
-?/. - c.571G>C - r.(?) p.(Glu191Gln)
+/. 8i c.612+1G>A - r.spl p.?
-/. - c.612+8T>C - r.(=) p.(=)
-?/. - c.612+8T>C - r.(=) p.(=)
-/. - c.612+15C>T - r.(=) p.(=)
+?/. 9 c.647del - r.(?) p.(Ser216Ilefs*12)
+/. 9 c.694del - r.(?) p.(Gln232Argfs*31)
?/. - c.725A>G - r.(?) p.(Tyr242Cys)
+?/. - c.739del - r.(?) p.(Ala247Leufs*16)
-?/. - c.756A>G - r.(?) p.(Gln252=)
-/. - c.771T>C - r.(?) p.(Ala257=)
-/. - c.771T>C - r.(?) p.(Ala257=)
-/. 10 c.771T>C - r.(?) p.(?)
?/. - c.780A>G - r.(?) p.(Pro260=)
./. 11-107 c.823_17014del - r.? p.Gln275_Asn5671del
?/. - c.914A>G - r.(?) p.(Asp305Gly)
+/. 11i c.928-7_928-5del - r.spl? p.?
+/. 11i c.928-1G>A - r.spl p.?
+/. 11i c.928-1G>A - r.spl p.?
-?/. - c.1022T>A - r.(?) p.(Val341Glu)
+/. 13 c.1055_1056del - r.(?) p.(Tyr352*)
-?/. - c.1098T>C - r.(?) p.(Ala366=)
+/. 13i c.1152+1G>A - r.spl p.(del?)
+?/. 13i c.1152+1G>A - r.spl p.(del?)
+/. 13i c.1152+1G>T - r.spl p.?
+/. 13i c.1152+5G>A - r.(spl?) p.?
+/. 14 c.1172_1173del - r.(?) p.(Tyr391*)
-?/. - 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)
+/. 17i c.1569+1G>A - r.spl p.?
?/. - c.1619C>G - r.(?) p.(Pro540Arg)
+/. 18 c.1622dup - r.(?) p.(Asp542*)
+/. 18 c.1623del - r.(?) p.(Pro541Profs*16)
+/. 18 c.1623del - r.(?) p.(Asp542Ilefs*15)
+/. - c.1623del - r.(?) p.(Asp542IlefsTer15)
+/. 18 c.1657_1665delinsTTTATAAT - r.(?) p.(Ala553Phefs*4)
+/. 18 c.1657_1665delinsTTTATAAT - r.(?) p.(Ala553Phefs*4)
+/. 18i c.1674+1G>T - r.spl p.?
+/. 18i c.1674+2T>C - r.spl p.?
+/. 18i c.1675-2A>G - r.spl p.?
+/. 18i c.1675-2A>G - r.spl p.?
-?/. - c.1779C>T - r.(?) p.(Ser593=)
?/. - c.1782+4_1782+5del - r.spl? p.?
+/. 20i c.1896+2T>C - r.spl p.?
?/. - c.1899A>T - r.(?) p.(Arg633Ser)
?/. - c.1911A>T - r.(?) p.(Glu637Asp)
+/. 22i c.2106+3A>C - r.1999_2106del p.Ala667_Asp702del
+/. 23i c.2211+5G>A - r.spl p.?
+?/. - c.2211+5G>A - r.spl? p.?
+?/. - c.2211+5G>C - r.spl? p.?
+/. 23i c.2212-1G>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)
+/. 25 c.2319C>G - r.(?) p.(Tyr773*)
?/. - c.2378T>C - r.(?) p.(Phe793Ser)
+/. - c.2415+1G>A - r.[2311_2415del,...] p.?
+/. 25i c.2415+1G>A - r.spl p.?
+/. 25i c.2415+1G>A - r.spl p.?
+/. 25i c.2415+1G>A - r.spl p.?
+/. 173 c.2444dup - r.(?) p.(Pro8147Profs*7)
+/. 173 c.2444dup - r.(?) p.(Pro8147Profs*7)
-?/. - c.2510A>G - r.(?) p.(Lys837Arg)
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