All variants in the FGF14 gene

Information The variants shown are described using the NM_004115.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-485009A>G r.(?) p.(=) - likely benign g.103054004T>C g.102401654T>C FGF14(NM_175929.2):c.25A>G (p.(Arg9Gly)) - FGF14_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-485007G>C r.(?) p.(=) - likely benign g.103054002C>G g.102401652C>G - - FGF14_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.78C>T r.(?) p.(Ala26=) - likely benign g.102568918G>A g.101916568G>A FGF14(NM_004115.3):c.78C>T (p.A26=) - FGF14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.123C>T r.(?) p.(Asn41=) - likely benign g.102568873G>A g.101916523G>A FGF14(NM_004115.3):c.123C>T (p.N41=) - FGF14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.153G>A r.(?) p.(Val51=) - VUS g.102568843C>T g.101916493C>T FGF14(NM_004115.3):c.153G>A (p.V51=) - FGF14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.278G>A r.(?) p.(Gly93Glu) - VUS g.102527562C>T g.101875212C>T - - FGF14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.304+2T>C r.spl? p.? - pathogenic g.102527534A>G g.101875184A>G FGF14(NM_175929.2):c.319+2T>C - FGF14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.335G>A r.(?) p.(Arg112His) - VUS g.102521148C>T - FGF14(NM_004115.3):c.335G>A (p.R112H) - FGF14_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.380T>A r.(?) p.(Met127Lys) - VUS g.102521103A>T g.101868753A>T FGF14(NM_175929.2):c.395T>A (p.M132K) - FGF14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.380T>A r.(?) p.(Met127Lys) - VUS g.102521103A>T - FGF14(NM_175929.2):c.395T>A (p.M132K) - FGF14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.384T>C r.(?) p.(Asn128=) - likely benign g.102521099A>G g.101868749A>G FGF14(NM_175929.2):c.399T>C (p.N133=) - FGF14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.408+65468G>T r.(=) p.(=) - VUS g.102455607C>A g.101803257C>A - - FGF14_000005 - - - - Germline - - - - - Yu Sun
?/. - c.408+65597del r.(=) p.(=) - VUS g.102455478del g.101803128del - - FGF14_000015 - - - - Germline - - - - - Yu Sun
?/. - c.408+65769T>G r.(=) p.(=) - VUS g.102455306A>C g.101802956A>C - - FGF14_000003 - - - - Germline - - - - - Yu Sun
?/. - c.408+66192G>A r.(=) p.(=) - VUS g.102454883C>T g.101802533C>T - - FGF14_000001 - - - - Germline - - - - - Yu Sun
?/. - c.408+66192G>A r.(=) p.(=) - VUS g.102454883C>T g.101802533C>T - - FGF14_000001 - - - - Germline - - - - - Yu Sun
?/. - c.408+66283C>G r.(=) p.(=) - VUS g.102454792G>C g.101802442G>C - - FGF14_000013 - - - - Germline - - - - - Yu Sun
?/. - c.408+66283C>T r.(=) p.(=) - VUS g.102454792G>A g.101802442G>A - - FGF14_000012 - - - - Germline - - - - - Yu Sun
?/. - c.408+66283C>T r.(=) p.(=) - VUS g.102454792G>A g.101802442G>A - - FGF14_000012 - - - - Germline - - - - - Yu Sun
?/. - c.408+66417A>C r.(=) p.(=) - VUS g.102454658T>G g.101802308T>G - - FGF14_000010 - - - - Germline - - - - - Yu Sun
?/. - c.408+66417A>C r.(=) p.(=) - VUS g.102454658T>G g.101802308T>G - - FGF14_000010 - - - - Germline - - - - - Yu Sun
?/. - c.408+66608C>T r.(=) p.(=) - VUS g.102454467G>A g.101802117G>A - - FGF14_000008 - - - - Germline - - - - - Yu Sun
?/. - c.408+66608C>T r.(=) p.(=) - VUS g.102454467G>A g.101802117G>A - - FGF14_000008 - - - - Germline - - - - - Yu Sun
?/. - c.408+66952C>A r.(=) p.(=) - VUS g.102454123G>T g.101801773G>T - - FGF14_000006 - - - - Germline - - - - - Yu Sun
?/. - c.408+66952C>A r.(=) p.(=) - VUS g.102454123G>T g.101801773G>T - - FGF14_000006 - - - - Germline - - - - - Yu Sun
+/. - c.434T>C r.(?) p.(Phe145Ser) - pathogenic g.102379135A>G g.101726785A>G FGF14(NM_001321949.1):c.182T>C (p.F61S) - FGF14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.481T>C r.(?) p.(Leu161=) - benign g.102379088A>G g.101726738A>G FGF14(NM_175929.2):c.496T>C (p.L166=) - FGF14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.636T>C r.(?) p.(His212=) - likely benign g.102375289A>G g.101722939A>G FGF14(NM_175929.2):c.651T>C (p.H217=) - FGF14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.636T>C r.(?) p.(His212=) - likely benign g.102375289A>G g.101722939A>G FGF14(NM_175929.2):c.651T>C (p.H217=) - FGF14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.693G>A r.(?) p.(Ala231=) - benign g.102375232C>T g.101722882C>T FGF14(NM_175929.2):c.708G>A (p.A236=) - FGF14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.693G>A r.(?) p.(Ala231=) - benign g.102375232C>T g.101722882C>T FGF14(NM_175929.2):c.708G>A (p.A236=) - FGF14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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