Transcript #00000034

Transcript name Meckel syndrome, type 1, transcript variant 2
Gene name MKS1 (Meckel syndrome, type 1)
Chromosome 17
Transcript - NCBI ID NM_017777.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001159399.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+ 2 c.51_55dup - r.(51_55dup) p.(Asp19Alafs*36)
+/. 1 c.55G>T - r.(?) p.(Asp19Tyr)
+?/+? 2 c.80+2T>C - r.spl? p.?
+/. 2 c.157dup - r.(?) p.(Asp53Glyfs*6)
+/? 2 c.184A>G - r.(?) p.(Thr62Ala)
+/+ 3 c.184_190del - r.[184_190del, spl?] p.[Thr62Valfs*14, spl?]
+/. 3i c.262-179_262-37del - r.? p.?
+?/+? 4i c.262-179_262-37del - r.262_417del p.Phe88_Glu139del
+/. 3i c.262-2A>G - r.spl? p.?
+/. 4 c.381delC - r.(?) p.(Tyr128Thrfs*17)
+/+ 5 c.392_393del - r.(392_393del) p.(Ser131*)
+/. 4 c.417G>A - r.262_417del p.Phe88_Glu139del
+/+ 5 c.417G>A - r.262_417del p.Phe88_Glu139del
+/+ 6i c.424C>T - r.424c>u) p.(Gln142*)
+/+ 6i c.472C>T - r.472c>u) p.(Arg158*)
+?/+? 6i c.496C>T - r.(496c>u) p.(Arg166Trp)
+?/+? 6i c.515+1G>A - r.spl? p.?
+/. 8 c.829G>T - r.(?) p.(Glu277*)
+/. 10 c.950G>A - r.(?) p.(Gly317Glu)
+?/+? 11 c.958G>A - r.[958g>a, spl?] p.[Val320Ile, ?]
+?/+? 12i c.1024+1G>A - r.(959_1024del) p.(Val320_His342delinsAsp)
+?/+? 13 c.1048C>G - r.(1048c>g) p.(Gln350Glu)
+/+ 13 c.1048C>T - r.(1048c>u) p.(Gln350*)
+?/. 13 c.1115_1117del - r.(?) p.(Ser372del)
+/. 13 c.1115_1117del - r.(?) p.(Ser372del)
+/. 13 c.1115_1117del - r.(?) p.(Ser372del)
+/. 13 c.1115_1117del - r.(?) p.(Ser372del)
+/. 14 c.1208C>T - r.(?) p.(Ser403Leu)
+?/+? 16i c.1407+2delT - r.spl? p.?
+/+ 15i c.1408-35_1408-7del - r.1408_1490del p.Glu471Leufs*92
+/. 16 c.1447_1448insCAGG - r.(?) p.(Thr485Argfs*107)
+/+ 17 c.1450_1453dup - r.(1450_1453dup) p.(Thr485Argfs*107)
+?/+? 17 c.1490G>A - r.[1490g>a, spl?] p.[Arg497Lys, ?]
+/. 17 c.1528dup - r.(?) p.(Arg510Profs*81)
+/. 17i c.1589-2A>T - r.spl p.?
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