Full data view for gene CC2D2A

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

Individual_ID     

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Consanguinity     

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Panel size     

Owner     
+/+ 8 c.517C>T - r.(517c>u) p.(Arg173*) Unknown g.15511840C>T - Arg173X - CC2D2A_000003 1 Mauritanian MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41) Both (homozygous) g.15512979del - - - CC2D2A_000031 - Trujillano et al., submitted - Germline - - - 0 - DNA SEQ, SEQ-NG - - COACH - Trujillano et al., submitted no information from parents - - - - - 0 - - 1 Daniel Trujillano
?/. 9 c.685_687del - r.(?) p.(Glu229del) Parent #1 g.15513014_15513016del - - - CC2D2A_000002 - PubMed: Neveling 2012 - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 9 c.685_687del - r.(?) p.(Glu229del) Parent #1 g.15513014_15513016del - - - CC2D2A_000002 - PubMed: Neveling 2012 - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 9 c.685_687del - r.(?) p.(Glu229del) Parent #2 g.15513014_15513016del - - - CC2D2A_000002 - PubMed: Neveling 2012 - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
+?/+? 11 c.685_687delGAA - r.(685_687delgaa) p.(Glu229del) Unknown g.15513014_15513016delGAA - 685_7delGAA (E229del) - CC2D2A_000024 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.834delG - r.(834delg) p.(Leu279Cysfs*40) Unknown g.15516446delG - Leu279CysfsX40 - CC2D2A_000004 1 American MKS6 family (het) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1339delG - r.(1339delg) p.(Ala447Argfs*11) Unknown g.15529259delG - Ala447ArgfsX11 - CC2D2A_000005 1 MKS6 family with undetermined ethnicity (het) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg) Paternal (confirmed) g.15534886T>A - Trp513X - CC2D2A_000006 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.1762C>T - r.1761_1764del p.Gln588Glyfs*29 Unknown g.15538697C>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 - - - - - - - - - - - - - - - - - - -
+?/. 17 c.1810G>A - r.(?) p.(Gly604Ser) Parent #2 g.15539567G>A - - - CC2D2A_000001 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
+?/+? 22i c.2486+1G>C - r.spl? p.? Parent #1 g.15554929G>C - - - CC2D2A_000008 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 24 c.2773C>T - r.(2773c>u) p.(Arg925*) Unknown g.15559074C>T - Arg925X - CC2D2A_000009 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.2803C>T - r.(?) p.(Arg935*) Parent #1 g.15559104C>T - - - CC2D2A_000030 - 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
+/. 23 c.2875del - r.(?) p.(Glu959Asnfs*3) Both (homozygous) g.15560833del - - - CC2D2A_000029 - 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
+/+ 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3) Unknown g.15565047delG - 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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 27 c.3145C>G - r.(3145c>g) p.(Arg1049Gly) Unknown g.15565108C>G - Arg1049X - CC2D2A_000011 1 Guadeloupean MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. 26i c.3289-1delG - r.spl p.? Parent #1 g.15569299delG - - - CC2D2A_000026 - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+/+ 29 c.3289delG - r.[3289del, spl?] p.[Val1097Phefs*2, ?] Unknown g.15569300delG - Val1097fs - CC2D2A_000012 first nt exon 29; 2 European MKS6 families (com-het) PubMed: Tallila al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 29 c.3341C>T - r.(3341c>u) p.(Thr1114Met) Unknown g.15569352C>T - - - CC2D2A_000013 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 29i c.3399-3C>A - r.spl? p.? Unknown g.15570913C>A - - - CC2D2A_000014 1 French MKS6 family (hom); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 27i_31i c.(3398+1_3399-1)_(3975+1_3976-1)del - r.(del) p.? Both (homozygous) 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 - - - - - - - - - - - - - - - - - - -
+/+ 31 c.3522_3523insTG - r.(3522_3523insug) p.(His1175Cysfs*13) Unknown g.15572047_15572048insTG - His1175CysfsX13 - CC2D2A_000016 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 31 c.3544T>C - r.(3544u>c) p.(Trp1182Arg) Unknown g.15572069T>C - W1182R - CC2D2A_000022 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - SUMMARY record yes 33/4111 CON het - - - - - - - - - - - - - - - - - - - - -
+/+ 31 c.3584delT - r.(3584delu) p.(Phe1195Serfs*11) Unknown g.15572109delT - Phe1195SerfsX11 - CC2D2A_000017 1 Turkish MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 31 c.3774dup - r.(?) p.(Glu1259*) Parent #2 g.15581593dup - - - CC2D2A_000023 - 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
+/+ 33 c.3774dupT - r.(3774dupu) p.(Glu1259*) Unknown g.15581593dup - 3774_5insT (E1259fsX1) - CC2D2A_000023 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - SUMMARY record yes 5/500 CON (het) - - - - - - - - - - - - - - - - - - - - -
+?/+? 33 c.3893T>A - r.(3893u>a) p.(Val1298Asp) Unknown g.15581712T>A - V1298D - CC2D2A_000025 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 33_33i c.3975_3975+3del - r.spl p.? Parent #1 g.15581794_15581797del - 3975_3975+3delAGTA - CC2D2A_000018 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 35 c.4179+1delG - r.spl? p.[(Gly1394Valfs*7, ?)] Parent #2 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 - - - - - - - - - - - - - - - - - - -
+?/+? 35i c.4179+1delG - r.spl? p.? Maternal (confirmed) g.15589553delG - - - CC2D2A_000020 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 38i c.4496+2T>A - r.spl p.? Parent #1 g.15599090T>A - - - CC2D2A_000021 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 37 c.4577C>A - r.(?) p.(Thr1526Asn) Parent #2 g.15601232C>A - - - CC2D2A_000027 - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
./. 38 c.4763T>C - r.(?) p.(Val1588Ala) Both (homozygous) g.15602948T>C - - - CC2D2A_000028 - PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
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