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

78 entries on 1 page. Showing entries 1 - 78.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-267T>A likely benign r.(=) p.(=)
-/. - c.-18C>G benign r.(=) p.(=)
?/. - c.10A>T VUS r.(?) p.(Thr4Ser)
-?/. - c.12C>T likely benign r.(=) p.(=)
-?/. - c.12C>T likely benign r.(=) p.(=)
-/. - c.12C>T benign r.(=) p.(=)
+/+ 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.?
-/. - c.118C>T benign r.(?) p.(His40Tyr)
+/. 2 c.157dup - r.(?) p.(Asp53Glyfs*6)
?/. - c.167C>G VUS r.(?) p.(Thr56Ser)
+/? 2 c.184A>G - r.(?) p.(Thr62Ala)
+/+ 3 c.184_190del - r.[184_190del, spl?] p.[Thr62Valfs*14, spl?]
-?/. - c.213C>G likely benign r.(?) p.(Asp71Glu)
-/. - c.213C>G benign r.(?) p.(Asp71Glu)
-?/. - c.213C>G likely benign r.(?) p.(Asp71Glu)
+/. 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.?
-?/. - c.368G>A likely benign r.(?) p.(Arg123Gln)
+/. 4 c.381delC - r.(?) p.(Tyr128Thrfs*17)
+/+ 5 c.392_393del - r.(392_393del) p.(Ser131*)
+?/. - c.417G>A likely pathogenic r.(=) p.(=)
+/. - c.417G>A pathogenic r.(=) p.(=)
+/. 4 c.417G>A - r.262_417del p.Phe88_Glu139del
+/+ 5 c.417G>A - r.262_417del p.Phe88_Glu139del
+?/. - c.417G>A likely pathogenic r.(=) p.(=)
+/+ 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)
-?/. - c.497G>A likely benign r.(?) p.(Arg166Gln)
+?/+? 6i c.515+1G>A - r.spl? p.?
?/. - c.515+12C>T VUS r.(=) p.(=)
-?/. - c.516-10T>C likely benign r.(=) p.(=)
+/. 8 c.829G>T - r.(?) p.(Glu277*)
?/. - c.857A>G VUS r.(?) p.(Asp286Gly)
-/. - c.858+9A>G benign r.(=) p.(=)
-/. - c.858+9A>G benign r.(=) p.(=)
-/. - c.858+9A>G benign r.(=) p.(=)
-/. - c.915+19_915+21del benign r.(=) p.(=)
-/. - c.916-119G>A benign r.(=) p.(=)
+/. 10 c.950G>A - r.(?) p.(Gly317Glu)
+?/+? 11 c.958G>A - r.[958g>a, spl?] p.[Val320Ile, ?]
?/. - c.1010A>G VUS r.(?) p.(Glu337Gly)
+?/+? 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)
-/. - c.1128G>A benign r.(=) p.(=)
-?/. - c.1138T>G likely benign r.(?) p.(Phe380Val)
-?/. - c.1148A>G likely benign r.(?) p.(His383Arg)
?/. - c.1196G>C VUS r.(?) p.(Cys399Ser)
+/. 14 c.1208C>T - r.(?) p.(Ser403Leu)
-/. - c.1273+11G>A benign r.(=) p.(=)
-/. - c.1273+11G>A benign r.(=) p.(=)
-/. - c.1273+39C>T benign r.(=) p.(=)
?/. - c.1349T>C VUS r.(?) p.(Ile450Thr)
+/. - c.1407+1G>A pathogenic r.spl? p.?
+?/+? 16i c.1407+2delT - r.spl? p.?
+/+ 15i c.1408-35_1408-7del - r.1408_1490del p.Glu471Leufs*92
+?/. - c.1408-34_1408-6del likely pathogenic r.(=) p.(=)
-/. - c.1415G>A benign r.(?) p.(Arg472His)
-/. - c.1435C>T benign r.(?) p.(Arg479Cys)
-/. - c.1436G>A benign r.(?) p.(Arg479His)
-/. - c.1436G>A benign r.(?) p.(Arg479His)
+/. 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, ?]
-/. - c.1498A>G benign r.(?) p.(Met500Val)
?/. - c.1505C>G VUS r.(?) p.(Ser502Trp)
+/. 17 c.1528dup - r.(?) p.(Arg510Profs*81)
+/. 17i c.1589-2A>T - r.spl p.?
-/. - c.1671G>C benign r.(=) p.(=)
-/. - c.*351del benign r.(=) p.(=)
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