All transcript variants in gene CC2D2A

Information The variants shown are described using the NM_001080522.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.124-6C>T - - - g.15482322C>T - CC2D2A:c.124-6C>T - CC2D2A_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.124-6C>T - - - g.15482322C>T - CC2D2A:NM_001080522.2:c.124-6C>T - CC2D2A_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.156C>T - - - g.15482360C>T - CC2D2A:c.156C>T (S52=) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.156C>T - - - g.15482360C>T - CC2D2A:c.156C>T (S52=) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.156C>T - - - g.15482360C>T - CC2D2A:NM_001080522.2:c.156C>T (= (Ser52Ser) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.355T>C - - - g.15504463T>C - CC2D2A:c.355T>C (=) - CC2D2A_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.355T>C - - - g.15504463T>C - CC2D2A:c.355T>C (=) - CC2D2A_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 8 c.517C>T - r.(517c>u) p.(Arg173*) g.15511840C>T g.15510217C>T Arg173X - CC2D2A_000003 1 Mauritanian MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
./. - c.541-20T>G - - - g.15512850T>G - CC2D2A:c.541-20T>G - CC2D2A_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.541-20T>G - - - g.15512850T>G - CC2D2A:c.541-20T>G - CC2D2A_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41) g.15512979del g.15511356del - - CC2D2A_000031 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
./. - c.676_678del - - - g.15513005_15513007del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.676_678del - - - g.15513005_15513007del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 9 c.685_687del - r.(?) p.(Glu229del) g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling
?/. 9 c.685_687del - r.(?) p.(Glu229del) g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling
?/. 9 c.685_687del - r.(?) p.(Glu229del) g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling
./. - c.685_687del - - - g.15513014_15513016del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.685_687del - - - g.15513014_15513016del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.685_687del - - - g.15513014_15513016del - CC2D2A:NM_001080522.2:c.685_687del (Glu229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 11 c.685_687delGAA - r.(685_687delgaa) p.(Glu229del) g.15513014_15513016delGAA g.15511391_15511393delGAA 685_7delGAA (E229del) - CC2D2A_000024 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+/+ 12 c.834delG - r.(834delg) p.(Leu279Cysfs*40) g.15516446delG g.15514823delG Leu279CysfsX40 - CC2D2A_000004 1 American MKS6 family (het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
./. - c.922T>C - - - g.15517532T>C - CC2D2A:c.922T>C (F308L) - CC2D2A_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.922T>C - - - g.15517532T>C - CC2D2A:c.922T>C (F308L) - CC2D2A_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 15 c.1339delG - r.(1339delg) p.(Ala447Argfs*11) g.15529259delG g.15527636delG Ala447ArgfsX11 - CC2D2A_000005 1 MKS6 family with undetermined ethnicity (het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
./. - c.1519A>G - - - g.15534868A>G - CC2D2A:c.1519A>G (K507E) - CC2D2A_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.1519A>G - - - g.15534868A>G - CC2D2A:c.1519A>G (K507E) - CC2D2A_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/+? 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg) g.15534886T>A g.15533263T>A Trp513X - CC2D2A_000006 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 18 c.1762C>T - r.1761_1764del p.Gln588Glyfs*29 g.15538697C>T g.15537074C>T - - CC2D2A_000007 variant creates new donor splice site; second most common Finnish MKS mutation: 11 Finnish MKS6 families (hom); also in European MKS6 patients PubMed: Tallila al. 2008 - rs116358011 SUMMARY record yes 3/575 FIN (het) - 0 - Anne Polvi
+?/. 17 c.1810G>A - r.(?) p.(Gly604Ser) g.15539567G>A g.15537944G>A - - CC2D2A_000001 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling
./. - c.2003+19C>T - - - g.15539779C>T - CC2D2A:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.2003+19C>T - - - g.15539779C>T - CC2D2A:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.2003+19C>T - - - g.15539779C>T - CC2D2A:NM_001080522.2:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 22i c.2486+1G>C - r.spl? p.? g.15554929G>C g.15553306G>C - - CC2D2A_000008 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 24 c.2773C>T - r.(2773c>u) p.(Arg925*) g.15559074C>T g.15557451C>T Arg925X - CC2D2A_000009 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/. 22 c.2803C>T - r.(?) p.(Arg935*) g.15559104C>T g.15557481C>T - - CC2D2A_000030 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - Christopher Watson
+/. 23 c.2875del - r.(?) p.(Glu959Asnfs*3) g.15560833del g.15559210del - - CC2D2A_000029 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - Christopher Watson
+/+ 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3) g.15565047delG g.15563424delG Lys1029fs - CC2D2A_000010 1 European MKS6 family (com-het) and 1 Turkish MKS6 family (hom) PubMed: Tallila al. 2009, PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 27 c.3145C>G - r.(3145c>g) p.(Arg1049Gly) g.15565108C>G g.15563485C>G Arg1049X - CC2D2A_000011 1 Guadeloupean MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
./. - c.3201G>A - - - g.15569018G>A - CC2D2A:NM_001080522.2:c.3201G>A (=) - CC2D2A_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 26i c.3289-1delG - r.spl p.? g.15569299delG g.15567676delG - - CC2D2A_000026 - - - - Unknown ? - - 0 - Sanne Savelberg
+/+ 29 c.3289delG - r.[3289del, spl?] p.[Val1097Phefs*2, ?] g.15569300delG g.15567677delG Val1097fs - CC2D2A_000012 first nt exon 29; 2 European MKS6 families (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 29 c.3341C>T - r.(3341c>u) p.(Thr1114Met) g.15569352C>T g.15567729C>T - - CC2D2A_000013 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 29i c.3399-3C>A - r.spl? p.? g.15570913C>A g.15569290C>A - - CC2D2A_000014 1 French MKS6 family (hom); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 27i_31i c.(3398+1_3399-1)_(3975+1_3976-1)del - r.(del) p.? g.(15569410_15570915)_(15581795_15587779)del - deletion ex28-31 - CC2D2A_000015 1 Algerian MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 31 c.3522_3523insTG - r.(3522_3523insug) p.(His1175Cysfs*13) g.15572047_15572048insTG g.15570424_15570425insTG His1175CysfsX13 - CC2D2A_000016 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 31 c.3544T>C - r.(3544u>c) p.(Trp1182Arg) g.15572069T>C g.15570446T>C W1182R - CC2D2A_000022 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes 33/4111 CON het - - - Anne Polvi
+/+ 31 c.3584delT - r.(3584delu) p.(Phe1195Serfs*11) g.15572109delT g.15570486delT Phe1195SerfsX11 - CC2D2A_000017 1 Turkish MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/. 31 c.3774dup - r.(?) p.(Glu1259*) g.15581593dup g.15579970dupT - - CC2D2A_000023 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - Christopher Watson
+/+ 33 c.3774dupT - r.(3774dupu) p.(Glu1259*) g.15581593dup g.15579970dupT 3774_5insT (E1259fsX1) - CC2D2A_000023 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes 5/500 CON (het) - - - Anne Polvi
+?/+? 33 c.3893T>A - r.(3893u>a) p.(Val1298Asp) g.15581712T>A g.15580089T>A V1298D - CC2D2A_000025 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+/+ 33_33i c.3975_3975+3del - r.spl p.? g.15581794_15581797del g.15580171_15580174del 3975_3975+3delAGTA - CC2D2A_000018 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 35 c.4179+1delG - r.spl? p.[(Gly1394Valfs*7, ?)] g.15589552delG - 4179delG (Gly1394fs) - CC2D2A_000019 reported as last nt exon 35; 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 35i c.4179+1delG - r.spl? p.? g.15589553delG g.15587930delG - - CC2D2A_000020 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 38i c.4496+2T>A - r.spl p.? g.15599090T>A g.15597467T>A - - CC2D2A_000021 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+?/. 37 c.4577C>A - r.(?) p.(Thr1526Asn) g.15601232C>A g.15599609C>A - - CC2D2A_000027 - - - - Unknown ? - - 0 - Sanne Savelberg
./. 38 c.4763T>C - r.(?) p.(Val1588Ala) g.15602948T>C g.15601325T>C - - CC2D2A_000028 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
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