Unique variants in gene TFAP2A

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 _1_7_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(7300000_10398649)_(10415219_10450000)del - - - TFAP2A_000000 - PubMed: Milunsky 2008 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.140A>C VUS r.(?) p.(His47Pro) g.10410474T>G - TFAP2A:c.122A>C (H41P) - TFAP2A_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.573C>T likely benign r.(=) p.(=) g.10404932G>A - TFAP2A:c.555C>T (=) - TFAP2A_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 4 c.641T>A - r.(?) p.(Val214Asp) g.10404864A>T g.10404631A>T NM_00104242:c.629T>A (V210D) - TFAP2A_000003 ClinVar-192351 PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 - - De novo - - - - - Andrey Marakhonov
+?/. 1 4 c.649C>A - r.(?) p.(Arg217Ser) g.10404856G>T g.10404623G>T NM_00104242:c.637C>A (R213S) - TFAP2A_000001 ClinVar-192350 PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 - - Germline yes - - - - Andrey Marakhonov
+/. 1 - c.697G>A pathogenic r.(?) p.(Glu233Lys) g.10404808C>T - TFAP2A:NM_003220.2:c.697G>A (Glu233Lys) - TFAP2A_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.723C>G likely benign r.(=) p.(=) g.10404782G>C - TFAP2A:c.705C>G (P235=) - TFAP2A_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.723del likely benign r.(?) p.(Glu242Serfs*24) g.10404782del - TFAP2A:NM_003220.2:c.723del (Glu242fs) - TFAP2A_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.725A>G likely pathogenic r.(?) p.(Glu242Gly) g.10404780T>C - TFA2PA:NM_003220.2:c.725A>G (Glu242Gly) - TFAP2A_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.740C>T pathogenic r.(?) p.(Ser247Leu) g.10404765G>A - TFAP2A:NM_003220.2:c.740C>T (Ser247Leu) - TFAP2A_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.746T>C - r.(?) p.(Leu249Pro) g.10404759A>G g.10404526A>G 10512T>C - TFAP2A_000004 - PubMed: Milunsky 2008 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.758T>C pathogenic r.(?) p.(Leu253Pro) g.10404747A>G - TFAP2A:NM_003220.2:c.758T>C (Leu253Pro) - TFAP2A_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.760C>G - r.(?) p.(Arg254Gly) g.10404745G>C g.10404512G>C 10526G>A - TFAP2A_000005 - PubMed: Milunsky 2008 - - De novo - - - - - Johan den Dunnen
+?/., +/. 3 4 c.763A>G pathogenic r.(?) p.(Arg255Gly) g.10404742T>C g.10404509T>C NM_00104242:c.751A>G (R251G), TFAP2A:NM_003220.2:c.763A>G (Arg255Gly), 10529A>G - TFAP2A_000002 ClinVar-17937; probable mosaicism in mother with light signs of BOFS, 1 more item PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015, ClinVar-SCV000223994, 1 more item - rs121909574 Germline, CLASSIFICATION record, De novo yes - - - - Andrey Marakhonov, VKGL-NL_Nijmegen, Johan den Dunnen
+/. 1 5 c.785G>A - r.(?) p.(Gly262Glu) g.10402823C>T g.10402590C>T 12448C>T - TFAP2A_000006 - PubMed: Milunsky 2008, OMIM:var0002 - rs121909575 De novo - - - - - Johan den Dunnen
-?/. 1 - c.979G>A likely benign r.(?) p.(Asp327Asn) g.10400727C>T - TFAP2A:NM_003220.2:c.979G>A (Asp327Asn) - TFAP2A_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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