Transcript #00000742 (NM_000381.3, MID1 gene)

Transcript name transcript variant 1
Gene name MID1 (midline 1 (Opitz/BBB syndrome))
Chromosome X
Transcript - NCBI ID NM_000381.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000372.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1_10_ c.(?_-1)_(*1_?)dup r.? p.?
-?/. - c.75C>T r.(?) p.(Cys25=)
-?/. - c.76G>A r.(?) p.(Ala26Thr)
-?/. - c.99C>T r.(?) p.(Cys33=)
?/. - c.106C>T r.(?) p.(Arg36Cys)
-?/. - c.229G>A r.(?) p.(Val77Ile)
?/. - c.263A>G r.(?) p.(Lys88Arg)
+?/. 1 c.401G>A r.(?) p.(Cys134Tyr)
+?/. 1 c.401G>A r.(?) p.(Cys134Tyr)
?/. - c.430G>A r.(?) p.(Glu144Lys)
+?/. - c.433T>A r.(?) p.(Cys145Ser)
+/. - c.452C>T r.(?) p.(Pro151Leu)
?/. - c.511C>T r.(?) p.(Arg171Trp)
+/. - c.537_550del r.(?) p.(Asp180Tyrfs*7)
-/. - c.588C>G r.(?) p.(Ala196=)
?/. - c.588C>G r.(?) p.(Ala196=)
-?/. - c.588C>G r.(?) p.(Ala196=)
?/. - c.660+1885_660+1886del r.(=) p.(=)
?/. - c.660+1885_660+1886del r.(=) p.(=)
?/. - c.660+1886del r.(=) p.(=)
?/. - c.660+1886del r.(=) p.(=)
./. - c.661-110_756+146dup r.? p.?
?/. - c.661-8_661-7dup r.(=) p.(=)
-/. - c.661-7del r.(=) p.(=)
-?/. - c.661-7del r.(=) p.(=)
-/. - c.661-7del r.(=) p.(=)
-/. - c.661-7dup r.(=) p.(=)
-/. - c.661-7dup r.(=) p.(=)
-?/. - c.661-7dup r.(=) p.(=)
?/. - c.661-7dup r.(=) p.(=)
-?/. - c.661-6del r.(=) p.(=)
-/. - c.661-6G>T r.(=) p.(=)
-?/. - c.661-6G>T r.(=) p.(=)
-/. - c.661-6G>T r.(=) p.(=)
-?/. - c.661-5A>T r.spl? p.?
+/. - c.661-1G>T r.spl? p.?
-?/. - c.674G>A r.(?) p.(Ser225Asn)
+/. - c.712G>T r.(?) p.(Glu238*)
-?/. - c.757-10782G>A r.(=) p.(=)
?/. - c.757-5825A>G r.(=) p.(=)
-?/. - c.757-5748C>T r.(=) p.(=)
-?/. - c.757-5746C>T r.(=) p.(=)
-?/. - c.757-5745G>A r.(=) p.(=)
?/. - c.757-5745G>A r.(=) p.(=)
?/. - c.757-5745G>A r.(=) p.(=)
?/. - c.757-4969A>C r.(=) p.(=)
?/. - c.757-142A>C r.(=) p.(=)
+/. - c.829C>T r.(?) p.(Arg277*)
-?/. 4 c.861G>A r.(?) p.(=)
+/. - c.1102C>T r.(?) p.(Arg368*)
?/. - c.1141G>T r.(?) p.(Ala381Ser)
-/. - c.1230C>T r.(=) p.(=)
-?/. 7 c.1230C>T r.(?) p.(=)
?/. - c.1231G>A r.(?) p.(Val411Met)
?/. - c.1285+3G>A r.spl? p.?
?/. - c.1285+13T>C r.(=) p.(=)
-?/. - c.1285+147G>C r.(=) p.(=)
-?/. - c.1347G>A r.(?) p.(Thr449=)
+/. - c.1354G>A r.(?) p.(Gly452Ser)
-?/. - c.1365C>T r.(?) p.(Ser455=)
?/. - c.1414C>T r.(?) p.(Arg472Cys)
?/. - c.1414C>T r.(?) p.(Arg472Cys)
?/. - c.1414C>T r.(?) p.(Arg472Cys)
+?/. - c.1440_1443dup r.(?) p.(Asn482AspfsTer7)
+/. - c.1483C>T r.(?) p.(Arg495*)
-?/. - c.1489C>T r.(?) p.(Leu497=)
+/. - c.1530_1533dup r.(?) p.(Ser512Valfs*10)
-?/. - c.1561C>T r.(?) p.(Arg521Cys)
-?/. - c.1561C>T r.(?) p.(Arg521Cys)
?/. - c.1688C>T r.(?) p.(Pro563Leu)
+/. - c.1752G>A r.(?) p.(Trp584Ter)
-?/. 10 c.1917C>T r.(?) p.(=)
?/. - c.1988C>T r.(?) p.(Thr663Ile)
-?/. - c.1988C>T r.(?) p.(Thr663Ile)
-/. - c.2000C>T r.(?) p.(Pro667Leu)
?/. - c.2000C>T r.(?) p.(Pro667Leu)
?/. - c.2000C>T r.(?) p.(Pro667Leu)
?/. - c.*1262del r.(=) p.(=)
?/. - c.*1262del r.(=) p.(=)
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