Full data view for gene MKS1

Information The variants shown are described using the NM_017777.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.51_55dup - r.(51_55dup) p.(Asp19Alafs*36) Parent #1 g.56296537_56296541dup - 50insCCGGG: P17fsX163 - MKS1_000005 1 German MKS1 family (com-het) PubMed: Kyttälä et al. 2006 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.55G>T - r.(?) p.(Asp19Tyr) Both (homozygous) g.56296537C>A - - - MKS1_000027 - - - Germline - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - Pakistan - - 0 - - 1 Hester Y. Kroes
+?/+? 2 c.80+2T>C - r.spl? p.? Unknown g.56296510A>G - IVS1+2T>C: affects splicing - MKS1_000006 affects splicing;1 German MKS1 family (com-het) PubMed: Kyttälä et al. 2006 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.157dup - r.(?) p.(Asp53Glyfs*6) Unknown g.56296014dup - - - MKS1_000026 - - - Germline - - - 0 - DNA SEQ-NG-S - - JBTS-1 - - - - no Netherlands - - 0 - - 1 Hester Y. Kroes
+/? 2 c.184A>G - r.(?) p.(Thr62Ala) Both (homozygous) g.56295987T>C - - - MKS1_000003 - - - Germline yes - - - - DNA SEQ - - CORD - - - - - (Saudi Arabia) - - - - - 1 Leen Abu Safieh
+/+ 3 c.184_190del - r.[184_190del, spl?] p.[Thr62Valfs*14, spl?] Paternal (confirmed) g.56295981_56295987del - c.184_190del7: p.T61VfsX14 - MKS1_000013 deletion last nucleotides exon 3; 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4i c.262-179_262-37del - r.262_417del p.Phe88_Glu139del Both (homozygous) g.56293641_56293783del - c.262-37_179del: skipping of exon 4: protein lacking aa 88-139 - MKS1_000019 skipping of exon 4: protein lacking aa 88-139; 1 Turkish MKS1 family (hom) PubMed: Frank et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.262-179_262-37del - r.? p.? Both (homozygous) g.56293641_56293783del - - - MKS1_000019 - - - Germline - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - Turkey - - 0 - - 1 Hester Y. Kroes
+/. 3i c.262-2A>G - r.spl? p.? Parent #1 g.56293606T>C - - - MKS1_000031 - PubMed: Watson 2016, Journal: Watson 2016 - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. 4 c.381delC - r.(?) p.(Tyr128Thrfs*17) Unknown g.56293485delG - - - MKS1_000025 - - - De novo - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - Greece - - 0 - - 1 Hester Y. Kroes
+/+ 5 c.392_393del - r.(392_393del) p.(Ser131*) Parent #1 g.56293473_56293474delAG - 392_393delCT (Ser131X) - MKS1_000020 1 Finnish MKS1 family (com-het) PubMed: Tallila et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.417G>A - r.262_417del p.Phe88_Glu139del Unknown g.56293449C>T - 417G>A: 262del156 (exon 4 skipping): F88_E139del - MKS1_000007 RNA exon 4 skipping;1 Dutch, 1 French and 2 German MKS1 families (all com-het) PubMed: Consugar_2007, PubMed: Khaddour et al. 2007, PubMed: Frank et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.417G>A - r.262_417del p.Phe88_Glu139del Parent #2 g.56293449C>T - - - MKS1_000024 - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - JBTS-1 - - - - - - - - 0 - - 1 Hester Y. Kroes
+/+ 6i c.424C>T - r.424c>u) p.(Gln142*) Paternal (confirmed) g.56292193G>A - c.424C>T: p.Q142X - MKS1_000014 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 6i c.472C>T - r.472c>u) p.(Arg158*) Paternal (confirmed) g.56292145G>A - c.472C>T: p.R158X - MKS1_000015 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6i c.496C>T - r.(496c>u) p.(Arg166Trp) Unknown g.56292121G>A - p.Arg166Trp - MKS1_000021 1 Finnish MKS1 family (com-het) PubMed: Tallila et al. 2009 rs201845154 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6i c.515+1G>A - r.spl? p.? Both (homozygous) g.56292101C>T - c.515+1G>A: destructs donor splice site - MKS1_000017 destroys donor splice site; 1 Kuwaiti MKS1 family (hom) PubMed: Frank et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.829G>T - r.(?) p.(Glu277*) Unknown g.56290372C>A - - - MKS1_000002 - - - Unknown - - - 0 - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 10 c.950G>A - r.(?) p.(Gly317Glu) Unknown g.56288349C>T - - - MKS1_000023 - - - Unknown - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - mixed background (father Greek, mother Trinidad) - - Greece Greek;Trinidad - 0 - - 1 Hester Y. Kroes
+?/+? 11 c.958G>A - r.[958g>a, spl?] p.[Val320Ile, ?] Paternal (confirmed) g.56288341C>T - c.958G>A: p.V320I, splice variant - MKS1_000016 variant last nucleotide exon 11, affects splicing; 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - SUMMARY record yes 0/105 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 12i c.1024+1G>A - r.(959_1024del) p.(Val320_His342delinsAsp) Maternal (confirmed) g.56288019C>T - IVS11+1G>A: 959del66: V320_H342delinsD - MKS1_000008 1 Caucasian-African-American MKS1 family (com-het) PubMed: Consugar_2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 13 c.1048C>G - r.(1048c>g) p.(Gln350Glu) Both (homozygous) g.56285921G>C - c.1048C>G: p.Q350X - MKS1_000009 1 Palestinian MKS1 family (hom) PubMed: Khaddour et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1048C>T - r.(1048c>u) p.(Gln350*) Both (homozygous) g.56285921G>A - c.1048C>T: p.Q350X - MKS1_000010 1 Palestinian MKS1 family (hom) PubMed: Khaddour et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1115_1117del - r.(?) p.(Ser372del) Parent #1 g.56285514_56285516del - - - MKS1_000022 - - - Germline - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - Greece - - 0 - - 1 Hester Y. Kroes
+/. 13 c.1115_1117del - r.(?) p.(Ser372del) Both (homozygous) g.56285514_56285516del - - - MKS1_000022 - - - Germline - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - Serbia - - 0 - - 1 Hester Y. Kroes
+/. 13 c.1115_1117del - r.(?) p.(Ser372del) Unknown g.56285514_56285516del - - - MKS1_000022 - - - Unknown - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - mixed background (father Greek, mother Trinidad) - - Greece Greek;Trinidad - 0 - - 1 Hester Y. Kroes
+?/. 13 c.1115_1117del - r.(?) p.(Ser372del) Both (homozygous) g.56285514_56285516del - 1115_1117delCCT - MKS1_000022 - - - Germline yes - - 0 - DNA SEQ-NG-IT blood - JBTS IV-10 - - M yes Pakistan Pashton - 0 - - 1 Irfan Ullah
+/. 14 c.1208C>T - r.(?) p.(Ser403Leu) Parent #1 g.56285320G>A - - - MKS1_000028 - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - JBTS-1 - - - - - - - - 0 - - 1 Hester Y. Kroes
+?/+? 16i c.1407+2delT - r.spl? p.? Both (homozygous) g.56284444delA - c.1407+2delT: destructs donor splice site - MKS1_000018 destroys donor splice site; 1 Turkish MKS1 family (hom) PubMed: Frank et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 15i c.1408-35_1408-7del - r.1408_1490del p.Glu471Leufs*92 Parent #1 g.56283915_56283943del - Finmajor: IVS15-7_35 del: Exon 16 skipping: P470fsX562; c.1408-35_1408-7del29: p.G470GfsX93 - MKS1_000004 Finmajor, RNA exon 16 skipping; 70% of the Finnish MKS patients (most hom). Also common in non-Finnish MKS patients: observed in Afrikan-American, American, Dutch, English, French, German, Italian, Irish PubMed: Kyttälä et al. 2006, PubMed: Consugar et al. 2007, PubMed: Frank et al. 2007, PubMed: Khaddour et al. 2007, PubMed: Auber et al. 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1447_1448insCAGG - r.(?) p.(Thr485Argfs*107) Unknown g.56283868_56283869insCCTG - - - MKS1_000001 - - - Unknown - - - 0 - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 17 c.1450_1453dup - r.(1450_1453dup) p.(Thr485Argfs*107) Both (homozygous) g.56283863_56283866dup - c.1448_1451dupCAGG: p.G484GfsX108; 1448_1451dupCAGG: T485fsX591 - MKS1_000011 1 Pakistani MKS1 family (hom) and 1 MKS1 patient with nondescribed ethnicity (hom) PubMed: Khaddour et al. 2007, PubMed: Dave et al. 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 17 c.1490G>A - r.[1490g>a, spl?] p.[Arg497Lys, ?] Maternal (confirmed) g.56283826C>T - c.1490G>A: p.R497K, splice variant - MKS1_000012 variant last nucleotide exon 17, affects splicing; 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - SUMMARY record yes 0/105 CON - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.1528dup - r.(?) p.(Arg510Profs*81) Both (homozygous) g.56283704dup - - - MKS1_000029 - - - Germline - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - India - - 0 - - 1 Hester Y. Kroes
+/. 17i c.1589-2A>T - r.spl p.? Both (homozygous) g.56283533T>A - - - MKS1_000030 - - - Germline - - - 0 - DNA SEQ-NG-I - - JBTS-1 - - - - - Slovenia - - 0 - - 1 Hester Y. Kroes
Legend