All variants in the COL14A1 gene

Information The variants shown are described using the NM_021110.1 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.13C>T r.(?) p.(Gln5*) - VUS g.121160094C>T - COL14A1(NM_021110.4):c.13C>T (p.Q5*) - COL14A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.612T>C r.(?) p.(Gly204=) - benign g.121210069T>C g.120197830T>C COL14A1(NM_021110.4):c.612T>C (p.G204=) - COL14A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.921T>C r.(?) p.(Ser307=) - benign g.121215991T>C g.120203752T>C COL14A1(NM_021110.4):c.921T>C (p.S307=) - COL14A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1687A>C r.(?) p.(Asn563His) - benign g.121228679A>C g.120216440A>C COL14A1(NM_021110.4):c.1687A>C (p.N563H) - COL14A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1756A>G r.(?) p.(Thr586Ala) - likely benign g.121237345A>G - COL14A1(NM_021110.4):c.1756A>G (p.(Thr586Ala), p.T586A) - COL14A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1756A>G r.(?) p.(Thr586Ala) - VUS g.121237345A>G - COL14A1(NM_021110.4):c.1756A>G (p.(Thr586Ala), p.T586A) - COL14A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2230G>A r.(?) p.(Gly744Ser) - likely benign g.121243738G>A - COL14A1(NM_021110.4):c.2230G>A (p.(Gly744Ser)) - COL14A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2257G>A r.(?) p.(Val753Ile) - VUS g.121243765G>A g.120231526G>A COL14A1(NM_021110.4):c.2257G>A (p.V753I) - COL14A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2530C>T r.(?) p.(Arg844Trp) - VUS g.121259902C>T - COL14A1(NM_021110.4):c.2530C>T (p.R844W) - COL14A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2988A>G r.(?) p.(=) - likely benign g.121275225A>G - COL14A1(NM_021110.4):c.2988A>G (p.(Gly996=)) - COL14A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3589G>A r.(?) p.(Ala1197Thr) - VUS g.121292281G>A g.120280042G>A COL14A1(NM_021110.1):c.3589G>A (p.(Ala1197Thr)) - COL14A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4024G>C r.(?) p.(Val1342Leu) - benign g.121298156G>C g.120285917G>C COL14A1(NM_021110.4):c.4024G>C (p.V1342L) - COL14A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4307C>T r.(?) p.(Pro1436Leu) - VUS g.121309820C>T - NM_021110:c.C4307T (P1436L) - COL14A1_000012 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.4508C>G r.(?) p.(Pro1503Arg) - VUS g.121326223C>G g.120313984C>G COL14A1(NM_021110.1):c.4508C>G (p.(Pro1503Arg)) - COL14A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5040C>T r.(?) p.(=) - likely benign g.121357765C>T - COL14A1(NM_021110.4):c.5040C>T (p.(Pro1680=)) - COL14A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.5312-343T>C r.(=) p.(=) - benign g.121383048T>C g.120370809T>C COL14A1(NM_021110.4):c.5312-343T>C - COL14A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.5312-309A>T r.(=) p.(=) - benign g.121383082A>T g.120370843A>T COL14A1(NM_021110.4):c.5312-309A>T - COL14A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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