Full data view for gene TAF1C

Information The variants shown are described using the NM_139353.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.934C>G VUS r.(?) p.(Arg312Gly) Unknown g.84214963G>C - TAF1C(NM_005679.3):c.1213C>G (p.R405G) - DNAAF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971C>T VUS r.(?) p.(Pro324Leu) Unknown g.84214785G>A - TAF1C(NM_005679.3):c.1250C>T (p.P417L) - DNAAF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.990T>C VUS r.(?) p.(=) Unknown g.84214766A>G - TAF1C(NM_001243156.1):c.1191T>C (p.(=)) - TAF1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1213C>T VUS r.(?) p.(Arg405Trp) Unknown g.84213845G>A - TAF1C(NM_005679.3):c.1492C>T (p.R498W) - DNAAF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1517G>A likely benign r.(?) p.(Arg506His) Unknown g.84213358C>T - TAF1C(NM_005679.3):c.1799G>A (p.R600H) - DNAAF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1559C>T likely benign r.(?) p.(Pro520Leu) Unknown g.84213316G>A - TAF1C(NM_005679.3):c.1841C>T (p.P614L) - DNAAF1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1626_1638del VUS r.(?) p.(Cys542*) Unknown g.84213242_84213254del - TAF1C(NM_001243156.1):c.1830_1842del (p.?) - TAF1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1082A>G benign r.(=) p.(=) Unknown g.84211465T>C - DNAAF1(NM_178452.5):c.*18T>C - DNAAF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1140G>A VUS r.(=) p.(=) Unknown g.84211407C>T - DNAAF1(NM_178452.5):c.2138C>T (p.T713M) - DNAAF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1144G>C benign r.(=) p.(=) Unknown g.84211403C>G - DNAAF1(NM_178452.5):c.2134C>G (p.P712A) - DNAAF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1169T>C benign r.(=) p.(=) Unknown g.84211378A>G - DNAAF1(NM_178452.5):c.2109A>G (p.G703=) - DNAAF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2683C>G benign r.(=) p.(=) Unknown g.84209864G>C - DNAAF1(NM_178452.5):c.2024G>C (p.S675T) - DNAAF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2731A>G benign r.(=) p.(=) Unknown g.84209816T>C - DNAAF1(NM_178452.5):c.1976T>C (p.L659P) - DNAAF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2732G>C benign r.(=) p.(=) Unknown g.84209815C>G - DNAAF1(NM_178452.5):c.1975C>G (p.L659V) - DNAAF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2809A>G benign r.(=) p.(=) Unknown g.84209738T>C - DNAAF1(NM_178452.5):c.1898T>C (p.L633S) - DNAAF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2859C>T benign r.(=) p.(=) Unknown g.84209688G>A - DNAAF1(NM_178452.5):c.1848G>A (p.A616=) - DNAAF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2913G>C benign r.(=) p.(=) Unknown g.84209634C>G - DNAAF1(NM_178452.5):c.1794C>G (p.L598=) - DNAAF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2913G>C benign r.(=) p.(=) Unknown g.84209634C>G - DNAAF1(NM_178452.5):c.1794C>G (p.L598=) - DNAAF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2938G>A likely benign r.(=) p.(=) Unknown g.84209609C>T - DNAAF1(NM_178452.5):c.1769C>T (p.T590M) - DNAAF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4212C>A benign r.(=) p.(=) Unknown g.84208335G>T - DNAAF1(NM_178452.5):c.1698+7G>T - DNAAF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4218C>T VUS r.(=) p.(=) Unknown g.84208329G>A - DNAAF1(NM_178452.5):c.1698+1G>A - DNAAF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*6643C>T likely benign r.(=) p.(=) Unknown g.84205904G>A - DNAAF1(NM_178452.5):c.1567G>A (p.V523I) - DNAAF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*8583A>G likely pathogenic r.(=) p.(=) Unknown g.84203964T>C - DNAAF1(NM_178452.5):c.1528+2T>C - DNAAF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*8583A>G pathogenic r.(=) p.(=) Unknown g.84203964T>C - DNAAF1(NM_178452.5):c.1528+2T>C - DNAAF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8608G>A benign r.(=) p.(=) Unknown g.84203939C>T - DNAAF1(NM_178452.5):c.1505C>T (p.P502L) - DNAAF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*8650_*8727del VUS r.(=) p.(=) Unknown g.84203848_84203925del - DNAAF1(NM_178452.5):c.1414_1491del (p.T472_E497del) - DNAAF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*8763C>T likely benign r.(=) p.(=) Unknown g.84203784G>A - DNAAF1(NM_178452.5):c.1350G>A (p.P450=) - DNAAF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*8810C>T benign r.(=) p.(=) Unknown g.84203737G>A - DNAAF1(NM_178452.5):c.1303G>A (p.D435N) - DNAAF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*8814G>T likely benign r.(=) p.(=) Unknown g.84203733C>A - DNAAF1(NM_178452.5):c.1299C>A (p.D433E) - DNAAF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*8817C>G benign r.(=) p.(=) Unknown g.84203730G>C - DNAAF1(NM_178452.5):c.1296G>C (p.E432D) - DNAAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*8817C>G benign r.(=) p.(=) Unknown g.84203730G>C - DNAAF1(NM_178452.5):c.1296G>C (p.E432D) - DNAAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*8868G>C likely benign r.(=) p.(=) Unknown g.84203679C>G - DNAAF1(NM_178452.5):c.1245C>G (p.T415=) - DNAAF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*8935T>C benign r.(=) p.(=) Unknown g.84203612A>G - DNAAF1(NM_178452.5):c.1178A>G (p.K393R) - DNAAF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*8952G>C benign r.(=) p.(=) Unknown g.84203595C>G - DNAAF1(NM_178452.5):c.1161C>G (p.D387E) - DNAAF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*9036C>T benign r.(=) p.(=) Unknown g.84203511G>A - DNAAF1(NM_178452.5):c.1077G>A (p.A359=) - DNAAF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*9087T>A likely benign r.(=) p.(=) Unknown g.84203460A>T - DNAAF1(NM_178452.5):c.1031-5A>T - DNAAF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*9087T>A likely benign r.(=) p.(=) Unknown g.84203460A>T - DNAAF1(NM_178452.5):c.1031-5A>T - DNAAF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*13034G>T likely benign r.(=) p.(=) Unknown g.84199513C>A - DNAAF1(NM_178452.5):c.988C>A (p.R330=) - DNAAF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*13103G>C likely benign r.(=) p.(=) Unknown g.84199444C>G - DNAAF1(NM_178452.5):c.919C>G (p.Q307E) - DNAAF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*19229C>G likely benign r.(=) p.(=) Unknown g.84193318G>C - DNAAF1(NM_178452.5):c.780G>C (p.Q260H) - DNAAF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*19244G>C VUS r.(=) p.(=) Unknown g.84193303C>G - DNAAF1(NM_178452.5):c.765C>G (p.N255K) - DNAAF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24172G>C VUS r.(=) p.(=) Unknown g.84188375C>G - DNAAF1(NM_178452.5):c.546C>G (p.N182K) - DNAAF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24323C>T VUS r.(=) p.(=) Unknown g.84188224G>A - DNAAF1(NM_178452.5):c.395G>A (p.R132H) - DNAAF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*28583C>G benign r.(=) p.(=) Unknown g.84183964G>C - DNAAF1(NM_178452.5):c.352+17G>C - DNAAF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend