Full data view for gene TFAP2A

Information The variants shown are described using the NM_003220.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Owner     
+/. _1_7_ c.(?_-1)_(*1_?)del - r.0 p.0 Maternal (confirmed) g.(7300000_10398649)_(10415219_10450000)del - - - TFAP2A_000000 - PubMed: Milunsky 2008 - - Germline yes - - 0 - DNA arraySNP - - BOFS - PubMed: Milunsky 2008 2-generation family, affected mother/son - - United States - - 0 - - 2 Johan den Dunnen
?/. - c.140A>C VUS r.(?) p.(His47Pro) Unknown g.10410474T>G - TFAP2A(NM_001032280.2):c.122A>C (p.H41P) - TFAP2A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.149A>G likely benign r.(?) p.(Asn50Ser) Unknown g.10410465T>C - TFAP2A(NM_001032280.2):c.131A>G (p.(Asn44Ser), p.(Asn46Ser), p.(Asn50Ser)) - TFAP2A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420C>T benign r.(?) p.(=) Unknown g.10410194G>A - TFAP2A(NM_001032280.2):c.402C>T (p.=) - TFAP2A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.480+4A>G VUS r.spl? p.? Unknown g.10410130T>C - TFAP2A(NM_001032280.2):c.462+4A>G (p.?) - TFAP2A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T likely benign r.(?) p.(Pro165Leu) Unknown g.10407064G>A - TFAP2A(NM_001032280.2):c.476C>T (p.P159L) - TFAP2A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533G>A VUS r.(?) p.(Gly178Asp) Unknown g.10404972C>T - TFAP2A(NM_001032280.2):c.515G>A (p.(Gly172Asp), p.(Gly174Asp), p.(Gly178Asp)) - TFAP2A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.573C>T likely benign r.(?) p.(=) Unknown g.10404932G>A - TFAP2A(NM_001032280.2):c.555C>T (p.S185=) - TFAP2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.573C>T likely benign r.(?) p.(=) Unknown g.10404932G>A - TFAP2A(NM_001032280.2):c.555C>T (p.S185=) - TFAP2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.641T>A - r.(?) p.(Val214Asp) Unknown g.10404864A>T g.10404631A>T NM_00104242:c.629T>A (V210D) - TFAP2A_000003 ClinVar-192351 PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 - - De novo - - - 0 - DNA SEQ blood - BOFS - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 2-generation family, unaffected parents not carrying the variant F no Russian Federation Russian - 0 - - 1 Andrey Marakhonov
+?/. 4 c.649C>A - r.(?) p.(Arg217Ser) Maternal (confirmed) g.10404856G>T g.10404623G>T NM_00104242:c.637C>A (R213S) - TFAP2A_000001 ClinVar-192350 PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 - - Germline yes - - 0 - DNA SEQ blood - BOFS - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 2-generation family, affected mother/child F no Russian Federation Russian - 0 - - 2 Andrey Marakhonov
+/. - c.697G>A pathogenic r.(?) p.(Glu233Lys) Unknown g.10404808C>T - TFAP2A(NM_003220.2):c.697G>A (p.Glu233Lys) - TFAP2A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>G likely benign r.(?) p.(=) Unknown g.10404782G>C - TFAP2A(NM_001032280.2):c.705C>G (p.P235=) - TFAP2A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.725A>G likely pathogenic r.(?) p.(Glu242Gly) Unknown g.10404780T>C - TFA2PA(NM_003220.2):c.725A>G (p.Glu242Gly) - TFAP2A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.740C>T pathogenic r.(?) p.(Ser247Leu) Unknown g.10404765G>A - TFAP2A(NM_003220.2):c.740C>T (p.Ser247Leu) - TFAP2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.746T>C - r.(?) p.(Leu249Pro) Parent #1 g.10404759A>G g.10404526A>G 10512T>C - TFAP2A_000004 - PubMed: Milunsky 2008 - - De novo - - - 0 - DNA SEQ - - BOFS - PubMed: Milunsky 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.758T>C pathogenic r.(?) p.(Leu253Pro) Unknown g.10404747A>G - TFAP2A(NM_003220.2):c.758T>C (p.Leu253Pro) - TFAP2A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.760C>G - r.(?) p.(Arg254Gly) Parent #1 g.10404745G>C g.10404512G>C 10526G>A - TFAP2A_000005 - PubMed: Milunsky 2008 - - De novo - - - 0 - DNA SEQ - - BOFS - PubMed: Milunsky 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+?/. 4 c.763A>G - r.(?) p.(Arg255Gly) Maternal (inferred) g.10404742T>C g.10404509T>C NM_00104242:c.751A>G (R251G) - TFAP2A_000002 ClinVar-17937; probable mosaicism in mother with light signs of BOFS PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015, ClinVar-SCV000223994 - rs121909574 Germline yes - - 0 - DNA SEQ blood - BOFS - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 probably mosaicism in mother with light signs of BOFS (parotid fistula) M no Russian Federation Russian - 0 - - 1 Andrey Marakhonov
+/. 4 c.763A>G - r.(?) p.(Arg255Gly) Parent #1 g.10404742T>C g.10404509T>C 10529A>G - TFAP2A_000002 - PubMed: Milunsky 2008, OMIM:var0001 - rs121909574 De novo yes - - 0 - DNA SEQ - - BOFS - PubMed: Milunsky 2008 - F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.763A>G pathogenic r.(?) p.(Arg255Gly) Unknown g.10404742T>C - TFAP2A(NM_003220.2):c.763A>G (p.Arg255Gly) - TFAP2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.785G>A - r.(?) p.(Gly262Glu) Parent #1 g.10402823C>T g.10402590C>T 12448C>T - TFAP2A_000006 - PubMed: Milunsky 2008, OMIM:var0002 - rs121909575 De novo - - - 0 - DNA SEQ - - BOFS - PubMed: Milunsky 2008 - F - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.979G>A likely benign r.(?) p.(Asp327Asn) Unknown g.10400727C>T - TFAP2A(NM_003220.2):c.979G>A (p.Asp327Asn) - TFAP2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1179C>T likely benign r.(?) p.(=) Unknown g.10398785G>A - TFAP2A(NM_001032280.2):c.1161C>T (p.A387=) - TFAP2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1257C>T likely benign r.(?) p.(=) Unknown g.10398707G>A - TFAP2A(NM_001032280.2):c.1239C>T (p.=) - TFAP2A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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