All variants in the CCDC114 gene

Information The variants shown are described using the NM_144577.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.43C>T r.(?) p.(Arg15Cys) - VUS g.48821986G>A - CCDC114(NM_001364171.1):c.154C>T (p.R52C) - CCDC114_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.136C>T r.(?) p.(Arg46Trp) - benign g.48821757G>A g.48318500G>A CCDC114(NM_001364171.2):c.247C>T (p.(Arg83Trp)) - CCDC114_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.136C>T r.(?) p.(Arg46Trp) - benign g.48821757G>A g.48318500G>A - - CCDC114_000017 140 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16981988 Germline - 140/2795 individuals - - - Mohammed Faruq
-/. - c.136C>T r.(?) p.(Arg46Trp) - benign g.48821757G>A g.48318500G>A - - CCDC114_000017 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16981988 Germline - 3/2795 individuals - - - Mohammed Faruq
?/. - c.387_388insCGT r.(?) p.(Phe129_Asp130insArg) - VUS g.48814909_48814910insCGA g.48311652_48311653insCGA CCDC114(NM_001364171.2):c.498_499insCGT (p.(Phe129_Asp130insArg)), ODAD1(NM_144577.4):c.387_388insCGT (p.F129_D130insR) - CCDC114_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.387_388insCGT r.(?) p.(Phe129_Asp130insArg) - likely pathogenic g.48814909_48814910insCGA - CCDC114(NM_001364171.2):c.498_499insCGT (p.(Phe129_Asp130insArg)), ODAD1(NM_144577.4):c.387_388insCGT (p.F129_D130insR) - CCDC114_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.387_388insCGT r.(?) p.(Phe129_Asp130insArg) - VUS g.48814909_48814910insCGA - CCDC114(NM_001364171.2):c.498_499insCGT (p.(Phe129_Asp130insArg)), ODAD1(NM_144577.4):c.387_388insCGT (p.F129_D130insR) - CCDC114_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.411G>A r.(?) p.(Ala137=) - likely benign g.48814885C>T - CCDC114(NM_001364171.1):c.522G>A (p.A174=) - CCDC114_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.418C>T r.(?) p.(Arg140Trp) - VUS g.48814878G>A - CCDC114(NM_001364171.2):c.529C>T (p.(Arg177Trp)) - CCDC114_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.454C>T r.(?) p.(Arg152Cys) - likely benign g.48814842G>A g.48311585G>A CCDC114(NM_144577.3):c.454C>T (p.(Arg152Cys)) - CCDC114_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.461T>C r.(?) p.(Leu154Pro) - VUS g.48814835A>G - CCDC114(NM_001364171.2):c.572T>C (p.(Leu191Pro)) - CCDC114_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.471C>T r.(?) p.(Asp157=) - likely benign g.48814825G>A - CCDC114(NM_144577.4):c.471C>T (p.D157=) - CCDC114_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.487-2A>G r.spl? p.? - pathogenic g.48809582T>C - ODAD1(NM_001364171.2):c.598-2A>G - CCDC114_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.709G>A r.(?) p.(Asp237Asn) - likely benign g.48807243C>T - CCDC114(NM_144577.4):c.709G>A (p.D237N) - CCDC114_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.742G>A r.(?) p.(Ala248Thr) - pathogenic g.48807210C>T g.48303953C>T CCDC114(NM_001364171.2):c.853G>A (p.(Ala285Thr)), CCDC114(NM_144577.4):c.742G>A (p.A248T), ODAD1(NM_144577.4):c.742G>A (p.A248T) - CCDC114_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.742G>A r.(?) p.(Ala248Thr) - pathogenic g.48807210C>T g.48303953C>T CCDC114(NM_001364171.2):c.853G>A (p.(Ala285Thr)), CCDC114(NM_144577.4):c.742G>A (p.A248T), ODAD1(NM_144577.4):c.742G>A (p.A248T) - CCDC114_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.742G>A r.(?) p.(Ala248Thr) - pathogenic g.48807210C>T - CCDC114(NM_001364171.2):c.853G>A (p.(Ala285Thr)), CCDC114(NM_144577.4):c.742G>A (p.A248T), ODAD1(NM_144577.4):c.742G>A (p.A248T) - CCDC114_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.742G>A r.(?) p.(Ala248Thr) - pathogenic g.48807210C>T - CCDC114(NM_001364171.2):c.853G>A (p.(Ala285Thr)), CCDC114(NM_144577.4):c.742G>A (p.A248T), ODAD1(NM_144577.4):c.742G>A (p.A248T) - CCDC114_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.745G>A r.(?) p.(Gly249Arg) - benign g.48807039C>T g.48303782C>T CCDC114(NM_144577.3):c.745G>A (p.(Gly249Arg)), CCDC114(NM_144577.4):c.745G>A (p.G249R) - CCDC114_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.745G>A r.(?) p.(Gly249Arg) - likely benign g.48807039C>T g.48303782C>T CCDC114(NM_144577.3):c.745G>A (p.(Gly249Arg)), CCDC114(NM_144577.4):c.745G>A (p.G249R) - CCDC114_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.745G>A r.(?) p.(Gly249Arg) - benign g.48807039C>T - CCDC114(NM_144577.3):c.745G>A (p.(Gly249Arg)), CCDC114(NM_144577.4):c.745G>A (p.G249R) - CCDC114_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.747G>C r.(?) p.(Gly249=) - likely benign g.48807037C>G g.48303780C>G - - CCDC114_000032 - PubMed: Alsamri 2021 - rs745962113 Germline - - - - - Johan den Dunnen
-?/. - c.763G>A r.(?) p.(Val255Ile) - likely benign g.48807021C>T g.48303764C>T CCDC114(NM_144577.3):c.763G>A (p.(Val255Ile)) - CCDC114_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.986G>A r.(?) p.(Arg329His) - likely benign g.48806094C>T g.48302837C>T CCDC114(NM_001364171.2):c.1097G>A (p.(Arg366His)) - CCDC114_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1032G>A r.(?) p.(Lys344=) - likely benign g.48806048C>T g.48302791C>T - - CCDC114_000031 - PubMed: Alsamri 2021 - rs753921661 Germline - - - - - Johan den Dunnen
-/. - c.1103G>A r.(?) p.(Arg368Gln) - benign g.48805977C>T g.48302720C>T CCDC114(NM_144577.3):c.1103G>A (p.(Arg368Gln)), CCDC114(NM_144577.4):c.1103G>A (p.R368Q) - CCDC114_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1103G>A r.(?) p.(Arg368Gln) - likely benign g.48805977C>T g.48302720C>T CCDC114(NM_144577.3):c.1103G>A (p.(Arg368Gln)), CCDC114(NM_144577.4):c.1103G>A (p.R368Q) - CCDC114_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1111C>A r.(?) p.(Leu371Met) - VUS g.48805969G>T g.48302712G>T - - CCDC114_000019 38 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150271983 Germline - 38/2795 individuals - - - Mohammed Faruq
-?/. - c.1164C>T r.(?) p.(Asp388=) - likely benign g.48801563G>A - CCDC114(NM_144577.4):c.1164C>T (p.D388=) - CCDC114_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1312G>A r.(?) p.(Asp438Asn) - likely benign g.48801336C>T g.48298079C>T CCDC114(NM_144577.3):c.1312G>A (p.(Asp438Asn)) - CCDC114_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1391+5G>A r.spl? p.? - pathogenic g.48801252C>T - ODAD1(NM_144577.4):c.1391+5G>A - CCDC114_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1391+7C>T r.(=) p.(=) - likely benign g.48801250G>A - CCDC114(NM_001364171.1):c.1502+7C>T - CCDC114_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1561G>A r.(?) p.(Ala521Thr) - likely benign g.48800685C>T - CCDC114(NM_144577.4):c.1561G>A (p.A521T) - CCDC114_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1677C>T r.(?) p.(His559=) - likely benign g.48800569G>A - CCDC114(NM_001364171.1):c.1788C>T (p.H596=), CCDC114(NM_001364171.2):c.1788C>T (p.(His596=)) - CCDC114_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1677C>T r.(?) p.(His559=) - likely benign g.48800569G>A - CCDC114(NM_001364171.1):c.1788C>T (p.H596=), CCDC114(NM_001364171.2):c.1788C>T (p.(His596=)) - CCDC114_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1862del r.(?) p.(Gly621AlafsTer126) - VUS g.48800387del g.48297130del CCDC114(NM_001364171.2):c.1973del (p.(Gly658Alafs*126)), ODAD1(NM_144577.4):c.1862delG (p.G621Afs*126) - CCDC114_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1862del r.(?) p.(Gly621AlafsTer126) - VUS g.48800387del - CCDC114(NM_001364171.2):c.1973del (p.(Gly658Alafs*126)), ODAD1(NM_144577.4):c.1862delG (p.G621Afs*126) - CCDC114_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1913C>T r.(?) p.(Ser638Leu) - benign g.48800333G>A g.48297076G>A CCDC114(NM_001364171.2):c.2024C>T (p.(Ser675Leu)) - CCDC114_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1913C>T r.(?) p.(Ser638Leu) - benign g.48800333G>A g.48297076G>A - - CCDC114_000005 183 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74925056 Germline - 183/2795 individuals - - - Mohammed Faruq
-/. - c.1913C>T r.(?) p.(Ser638Leu) - benign g.48800333G>A g.48297076G>A - - CCDC114_000005 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74925056 Germline - 3/2795 individuals - - - Mohammed Faruq
-?/. - c.1916G>A r.(?) p.(Ser639Asn) - likely benign g.48800330C>T g.48297073C>T CCDC114(NM_001364171.2):c.2027G>A (p.(Ser639Asn)) - CCDC114_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1957G>A r.(?) p.(Gly653Ser) - likely benign g.48800289C>T g.48297032C>T CCDC114(NM_144577.3):c.1957G>A (p.(Gly653Ser)) - CCDC114_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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