Full data view for gene TFAP2B

Information The variants shown are described using the NM_003221.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.126G>C r.(?) p.(Gln42His) Unknown - VUS g.50791164G>C g.50823451G>C TFAP2B(NM_003221.4):c.126G>C (p.Q42H) - TFAP2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388C>A r.(?) p.(Pro130Thr) Unknown - VUS g.50791426C>A - TFAP2B(NM_003221.4):c.388C>A (p.P130T) - TFAP2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>A r.(?) p.(Asp136Glu) Unknown - likely benign g.50791446C>A - TFAP2B(NM_003221.3):c.408C>A (p.(Asp136Glu)) - TFAP2B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444C>A r.(?) p.(Asp148Glu) Parent #1 - benign g.50791482C>A g.50823769C>A - - TFAP2B_000011 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13216733 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-/. - c.540+14A>G r.(=) p.(=) Unknown - benign g.50791592A>G g.50823879A>G - - TFAP2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+28_540+31del r.(=) p.(=) Unknown - likely benign g.50791606_50791609del g.50823893_50823896del TFAP2B(NM_003221.3):c.540+7_540+10del (p.(=)) - TFAP2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+28_540+31dup r.(=) p.(=) Unknown - likely benign g.50791606_50791609dup g.50823893_50823896dup TFAP2B(NM_003221.3):c.540+7_540+10dup (p.(=)), TFAP2B(NM_003221.4):c.540+28_540+31dupCAAA - TFAP2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+28_540+31dup r.(=) p.(=) Unknown - likely benign g.50791606_50791609dup - TFAP2B(NM_003221.3):c.540+7_540+10dup (p.(=)), TFAP2B(NM_003221.4):c.540+28_540+31dupCAAA - TFAP2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.602-5_606del r.spl? p.? Unknown - likely pathogenic g.50803769_50803778del g.50836056_50836065del TFAP2B(NM_003221.3):c.602-5_606delTCTAGTTCCA - TFAP2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670G>A r.(?) p.(Val224Ile) Unknown - VUS g.50803842G>A g.50836129G>A - - TFAP2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Leu267=) Unknown - likely benign g.50803973C>T - TFAP2B(NM_003221.3):c.801C>T (p.L267=), TFAP2B(NM_003221.4):c.801C>T (p.L267=) - TFAP2B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Leu267=) Unknown - likely benign g.50803973C>T - TFAP2B(NM_003221.3):c.801C>T (p.L267=), TFAP2B(NM_003221.4):c.801C>T (p.L267=) - TFAP2B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851T>C r.(?) p.(Leu284Ser) Unknown - VUS g.50805717T>C - TFAP2B(NM_003221.4):c.851T>C (p.L284S) - TFAP2B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940+3A>T r.spl? p.? Unknown - VUS g.50805809A>T g.50838096A>T TFAP2B(NM_003221.3):c.940+3A>T (p.?) - TFAP2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976A>C r.(?) p.(Ile326Leu) Unknown - VUS g.50807904A>C g.50840191A>C TFAP2B(NM_003221.3):c.976A>C (p.(Ile326Leu)) - TFAP2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1006G>A r.(?) p.(Val336Ile) Parent #1 - likely benign g.50807934G>A g.50840221G>A - - TFAP2B_000012 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139339332 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
?/. - c.1304A>C r.(?) p.(Asn435Thr) Unknown - VUS g.50811026A>C g.50843313A>C TFAP2B(NM_003221.3):c.1304A>C (p.N435T) - TFAP2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1340del r.(?) p.(Pro447GlnfsTer26) Unknown - likely pathogenic g.50811062del g.50843349del - - TFAP2B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.