Transcript #00010307

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

69 entries on 1 page. Showing entries 1 - 69.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.75C>T r.(=) p.(=)
?/? c.157G>A r.(?) p.(Ala53Thr)
?/? c.162C>T r.(=) p.(=)
?/? c.229G>A r.(?) p.(Val77Ile)
?/? c.250G>A r.(?) p.(Asp84Asn)
?/? c.255G>T r.(?) p.(Arg85Ser)
?/? c.285C>T r.(=) p.(=)
?/? c.299C>A r.(?) p.(Thr100Asn)
?/? c.302G>A r.(?) p.(Arg101His)
?/? c.420C>G r.(=) p.(=)
?/? c.430G>A r.(?) p.(Glu144Lys)
?/? c.498G>A r.(=) p.(=)
?/? c.552T>G r.(?) p.(Asn184Lys)
?/? c.588C>G r.(=) p.(=)
?/? c.628G>A r.(?) p.(Ala210Thr)
?/? c.686A>G r.(?) p.(Asn229Ser)
?/? c.757-18A>T r.(=) p.(=)
?/? c.757-9A>G r.(=) p.(=)
?/? c.757-6C>T r.(=) p.(=)
?/? c.861G>A r.(=) p.(=)
?/? c.864+29A>T r.(=) p.(=)
?/? c.864+35T>C r.(=) p.(=)
?/? c.864+40G>A r.(=) p.(=)
?/? c.865-38C>A r.(=) p.(=)
?/? c.879C>T r.(=) p.(=)
?/? c.922C>T r.(?) p.(Arg308Trp)
?/? c.1013+9A>C r.(=) p.(=)
?/? c.1013+29C>T r.(=) p.(=)
?/? c.1013+39G>C r.(=) p.(=)
?/? c.1014-13G>T r.(=) p.(=)
?/? c.1014-9G>C r.(=) p.(=)
?/? c.1101C>T r.(=) p.(=)
?/? c.1116G>A r.(=) p.(=)
?/? c.1141+47_1141+48del r.(=) p.(=)
?/? c.1141+47_1141+48dup r.(=) p.(=)
?/? c.1206T>C r.(=) p.(=)
?/? c.1230C>T r.(=) p.(=)
?/? c.1242C>T r.(=) p.(=)
?/? c.1266C>T r.(=) p.(=)
?/? c.1285+16C>T r.(=) p.(=)
?/? c.1286-43C>T r.(=) p.(=)
?/? c.1286-39_1286-37del r.(=) p.(=)
?/? c.1299G>A r.(=) p.(=)
?/? c.1346C>T r.(?) p.(Thr449Met)
?/? c.1347G>A r.(=) p.(=)
?/? c.1415G>A r.(?) p.(Arg472His)
?/? c.1447+40T>C r.(=) p.(=)
?/? c.1448-51_1448-47del r.(=) p.(=)
?/? c.1448-33_1448-28del r.(=) p.(=)
?/? c.1448-27_1448-22del r.(=) p.(=)
?/? c.1480C>T r.(?) p.(His494Tyr)
?/? c.1489C>T r.(=) p.(=)
?/? c.1512G>C r.(?) p.(Leu504Phe)
?/? c.1514C>G r.(?) p.(Thr505Arg)
?/? c.1523G>A r.(?) p.(Arg508His)
?/? c.1551C>T r.(=) p.(=)
?/? c.1561C>T r.(?) p.(Arg521Cys)
?/? c.1562G>T r.(?) p.(Arg521Leu)
?/? c.1656-40A>G r.(=) p.(=)
?/? c.1656-4G>A r.spl? p.?
?/? c.1698A>G r.(=) p.(=)
?/? c.1793C>T r.(?) p.(Ala598Val)
?/? c.1854T>C r.(=) p.(=)
?/? c.1888G>A r.(?) p.(Asp630Asn)
?/? c.1966A>G r.(?) p.(Ile656Val)
?/? c.1988C>T r.(?) p.(Thr663Ile)
?/? c.2000C>T r.(?) p.(Pro667Leu)
?/? c.*3G>A r.(=) p.(=)
?/? c.*31G>A r.(=) p.(=)
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