Unique variants in gene COLEC11

Information The variants shown are described using the NM_024027.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/+? 1 ? c.-148-?_202+?del - r.(?) p.? g.3642637_3660972del g.3595047_3613382del Exon 1-3 deletion - COLEC11_000004 - PubMed: Rooryck 2011 - - Germline - - - - - Johan den Dunnen
+/+? 2 2 c.45del - r.(?) p.(Phe16Serfs*85) g.3651975del g.3604385del c.45delC - COLEC11_000001 - PubMed: Rooryck 2011 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.130+556G>C benign r.(=) p.(=) g.3652616G>C - COLEC11(NM_199235.2):c.42+556G>C - COLEC11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.130+1748C>T likely benign r.(=) p.(=) g.3653808C>T - COLEC11(NM_001255986.1):c.27C>T (p.Y9=) - COLEC11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.130+1784T>C benign r.(=) p.(=) g.3653844T>C - COLEC11(NM_199235.2):c.42+1784T>C - COLEC11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.161C>A likely benign r.(?) p.(Ala54Asp) g.3660931C>A - COLEC11(NM_199235.2):c.73C>A (p.P25T) - COLEC11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.165C>T likely benign r.(?) p.(=) g.3660935C>T - COLEC11(NM_199235.2):c.77C>T (p.P26L) - COLEC11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.203-11475G>A benign r.(=) p.(=) g.3673648G>A - COLEC11(NM_199235.2):c.159G>A (p.K53=) - COLEC11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.203-11466G>A likely benign r.(=) p.(=) g.3673657G>A - COLEC11(NM_199235.2):c.168G>A (p.S56=) - COLEC11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.203-11445A>G likely benign r.(=) p.(=) g.3673678A>G - COLEC11(NM_199235.2):c.189A>G (p.S63=) - COLEC11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.203-11443A>G benign r.(=) p.(=) g.3673680A>G - COLEC11(NM_199235.2):c.191A>G (p.Q64R) - COLEC11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.328+5G>A likely benign r.spl? p.? g.3687926G>A - COLEC11(NM_199235.2):c.319+5G>A - COLEC11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.432C>T likely benign r.(?) p.(=) g.3691324C>T - COLEC11(NM_199235.2):c.423C>T (p.A141=) - COLEC11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.514G>A likely benign r.(?) p.(Gly172Ser) g.3691406G>A - COLEC11(NM_199235.2):c.505G>A (p.G169S) - COLEC11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 3 ? c.610G>A - r.(?) p.(Gly204Ser) g.3691502G>A g.3643912G>A - - COLEC11_000002 - PubMed: Rooryck 2011 - - Germline - - - - - Johan den Dunnen
+/+? 1 ? c.648_650del - r.(?) p.(Ser217del) g.3691540_3691542del g.3643950_3643952del c.648_650delCTC - COLEC11_000003 - PubMed: Rooryck 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.665T>C VUS r.(?) p.(Met222Thr) g.3691557T>C - COLEC11(NM_001255982.1):c.593T>C (p.(Met198Thr)) - COLEC11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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