Full data view for gene CCDC120

Information The variants shown are described using the NM_033626.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-142-242T>C r.(=) p.(=) Maternal (inferred) - VUS g.48919248T>C g.49061717T>C - - CCDC120_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-142-242T>C r.(=) p.(=) Maternal (inferred) - VUS g.48919248T>C g.49061717T>C - - CCDC120_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.-43+18G>A r.(=) p.(=) Unknown - likely benign g.48919607G>A g.49062076G>A CCDC120(NM_001163321.2):c.35G>A (p.(Gly12Asp)) - CCDC120_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7_ c.(619+140_?)del r.? p.? Unknown - pathogenic (dominant) g.(48915437_48922335)_(48942321_48967391)del g.(49057906_49064804)_(49085409_49110453)del hg18 g.(48802381_48809279)_(48829265_48854335)del - WDR45_000075 19.9 Kb deletion involving WDR45, CCDC120 and PRAF2 PubMed: Abidi 2016 - - De novo - - - 0 - DNA arrayCGH - - NBIA patient PubMed: Abidi 2016 - M - France - - 0 - - 1 Johan den Dunnen
-/. - c.97C>T r.(?) p.(Arg33Trp) Unknown - benign g.48920046C>T g.49062515C>T CCDC120(NM_001271836.1):c.97C>T (p.R33W) - CCDC120_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.102G>T r.(=) p.(=) Parent #1 - likely benign g.48920051G>T g.49062520G>T G34G - CCDC120_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.376G>A r.(?) p.(Ala126Thr) Unknown - VUS g.48921952G>A g.49064421G>A CCDC120(NM_001163321.2):c.376G>A (p.(Ala126Thr)) - CCDC120_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.589C>T r.(?) p.(Leu197=) Unknown - likely benign g.48922165C>T g.49064634C>T CCDC120(NM_001271836.1):c.589C>T (p.L197=) - CCDC120_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676G>A r.(?) p.(Asp226Asn) Unknown - VUS g.48922623G>A g.49065092G>A CCDC120(NM_001271836.1):c.676G>A (p.D226N) - CCDC120_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976C>T r.(?) p.(Arg326Cys) Unknown - VUS g.48924731C>T g.49067195C>T CCDC120(NM_001271836.1):c.976C>T (p.R326C) - PRAF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1022C>T r.(?) p.(Ala341Val) Unknown - likely benign g.48924777C>T g.49067241C>T CCDC120(NM_001271836.1):c.1022C>T (p.A341V) - PRAF2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102C>T r.(?) p.(Arg368Trp) Unknown - VUS g.48924857C>T - CCDC120(NM_001271836.1):c.1102C>T (p.R368W) - CCDC120_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271G>T r.(?) p.(Ser424Ile) Unknown - VUS g.48925026G>T g.49067490G>T CCDC120(NM_001271836.1):c.1271G>T (p.S424I) - CCDC120_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1282C>A r.(?) p.(Pro428Thr) Unknown - likely benign g.48925037C>A g.49067501C>A CCDC120(NM_001163321.2):c.1387C>A (p.(Pro463Thr)), CCDC120(NM_001271836.1):c.1282C>A (p.P428T) - PRAF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282C>A r.(?) p.(Pro428Thr) Unknown - likely benign g.48925037C>A g.49067501C>A CCDC120(NM_001163321.2):c.1387C>A (p.(Pro463Thr)), CCDC120(NM_001271836.1):c.1282C>A (p.P428T) - PRAF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1351C>G r.(?) p.(Arg451Gly) Unknown - VUS g.48925106C>G g.49067570C>G CCDC120(NM_001271836.1):c.1351C>G (p.R451G) - CCDC120_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1384T>G r.(?) p.(Trp462Gly) Unknown - VUS g.48925139T>G - CCDC120(NM_001163322.2):c.1348T>G (p.W450G) - CCDC120_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477G>A r.(?) p.(Ala493Thr) Unknown - VUS g.48925232G>A g.49067696G>A CCDC120(NM_001271836.1):c.1477G>A (p.A493T) - CCDC120_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1569C>T r.(?) p.(Ala523=) Unknown - likely benign g.48925324C>T - CCDC120(NM_001271836.1):c.1569C>T (p.A523=) - CCDC120_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1576C>T r.(?) p.(Pro526Ser) Unknown - likely benign g.48925331C>T - CCDC120(NM_001271836.1):c.1576C>T (p.P526S) - CCDC120_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613C>T r.(?) p.(Pro538Leu) Unknown - VUS g.48925368C>T - CCDC120(NM_001271836.1):c.1613C>T (p.P538L) - CCDC120_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1633G>A r.(?) p.(Ala545Thr) Unknown - VUS g.48925388G>A g.49067852G>A CCDC120(NM_001163321.2):c.1738G>A (p.(Ala580Thr)) - CCDC120_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1679G>A r.(?) p.(Arg560Gln) Unknown - VUS g.48925434G>A g.49067898G>A CCDC120(NM_001271836.1):c.1679G>A (p.R560Q) - PRAF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1717C>G r.(?) p.(Pro573Ala) Unknown - likely benign g.48925472C>G - CCDC120:c.1717C>G - CCDC120_000025 - PubMed: Maranhao 2015 - - Germline - 5/25 families - 0 - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - 0 - - 5 LOVD
?/. - c.1757A>C r.(?) p.(His586Pro) Unknown - VUS g.48925512A>C g.49067976A>C CCDC120(NM_001163321.2):c.1862A>C (p.(His621Pro)) - CCDC120_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 10 c.1778G>A r.(?) p.(Arg593His) Maternal (confirmed) - VUS g.48925533G>A g.49067997G>A - - CCDC120_000002 - PubMed: Lindert 2016, Journal: Lindert 2016 - - Germline no - - 0 - DNA SEQ-NG-I Fibroblasts - OI 27380894-FamIIAPat1/II PubMed: Lindert 2016, Journal: Lindert 2016 3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II M no Germany German - 0 - - 2 Cecilia Giunta
-?/. - c.1778G>A r.(?) p.(Arg593His) Unknown - likely benign g.48925533G>A g.49067997G>A CCDC120(NM_001163321.2):c.1883G>A (p.(Arg628His)) - CCDC120_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1778G>A r.(?) p.(Arg593His) Parent #1 - VUS g.48925533G>A g.49067997G>A - - CCDC120_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1853C>T r.(?) p.(Ala618Val) Unknown - VUS g.48925608C>T g.49068072C>T CCDC120(NM_001163321.2):c.1853C>T (p.(Ala618Val)) - CCDC120_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*626del r.? p.? Unknown - VUS g.48926274del g.49068738del CCDC120(NM_001163321.2):c.*77del (p.(=)) - CCDC120_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query