Unique variants in the TRIM14 gene

Information The variants shown are described using the NM_014788.2 transcript reference sequence.

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

Reported     

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     
?/. 1 - c.977T>C r.(?) p.(Val326Ala) - VUS g.100850104A>G g.98087822A>G TRIM14(NM_014788.2):c.977T>C (p.(Val326Ala)) - NANS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4432del r.(?) p.(=) - VUS g.100845326del - NANS(NM_018946.3):c.1069delA (p.I357Sfs*?) - NANS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6381G>C r.(=) p.(=) - likely benign g.100843371C>G g.98081089C>G NANS(NM_018946.3):c.870+7C>G (p.(=)) - NANS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6447G>A r.(=) p.(=) - VUS g.100843305C>T - NANS(NM_018946.4):c.811C>T (p.(Arg271Cys)) - NANS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*6467C>T r.(=) p.(=) - likely benign g.100843285G>A - NANS(NM_018946.4):c.791G>A (p.(Arg264Gln)) - NANS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*6506G>A r.(=) p.(=) - likely benign g.100843246C>T g.98080964C>T NANS(NM_018946.3):c.752C>T (p.(Ser251Leu)) - NANS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6548C>T r.(=) p.(=) - VUS g.100843204G>A g.98080922G>A NANS(NM_018946.3):c.710G>A (p.R237H) - NANS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.*6549G>A r.(=) p.(=) - likely pathogenic, pathogenic g.100843203C>T g.98080921C>T NANS(NM_018946.3):c.709C>T (p.(Arg237Cys)) - NANS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 2 - c.*9164A>G r.(=) p.(=) - pathogenic g.100840588T>C g.98078306T>C NANS(NM_018946.4):c.562T>C (p.(Tyr188His)) - NANS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - c.*9212C>T r.(=) p.(=) - VUS g.100840540G>A - NANS(NM_018946.4):c.514G>A (p.V172M) - NANS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*9266C>T r.(=) p.(=) - VUS g.100840486G>A - NANS(NM_018946.3):c.460G>A (p.V154M) - NANS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*9274C>A r.(=) p.(=) - pathogenic g.100840478G>T g.98078196G>T NANS(NM_018946.3):c.452G>T (p.(Arg151Leu)) - NANS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*10550C>T r.(=) p.(=) - likely benign g.100839202G>A - NANS(NM_018946.4):c.351G>A (p.(Met117Ile)) - NANS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.*26565G>A r.(=) p.(=) - likely pathogenic g.100823187C>T - NANS(NM_018946.4):c.256C>T (p.(Arg86*)) - NANS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*26631G>C r.(=) p.(=) - VUS g.100823121C>G - NANS(NM_018946.3):c.190C>G (p.R64G) - NANS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.*30572del r.(?) p.(=) - likely pathogenic, VUS g.100819182del g.98056900del NANS(NM_018946.3):c.92delG (p.G31Afs*5), NANS(NM_018946.4):c.92del (p.(Gly31Alafs*5)) - NANS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.*30609G>A r.(=) p.(=) - likely benign g.100819143C>T - NANS(NM_018946.3):c.53C>T (p.(Pro18Leu)) - NANS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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