Transcript #00021013

Transcript name transcript variant 1
Gene name TFAP2A (transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha))
Chromosome 6
Transcript - NCBI ID NM_003220.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003211.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

18 entries on 1 page. Showing entries 1 - 18.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_7_ c.(?_-1)_(*1_?)del - r.0 p.0
?/. - c.140A>C VUS r.(?) p.(His47Pro)
-?/. - c.573C>T likely benign r.(=) p.(=)
+?/. 4 c.641T>A - r.(?) p.(Val214Asp)
+?/. 4 c.649C>A - r.(?) p.(Arg217Ser)
+/. - c.697G>A pathogenic r.(?) p.(Glu233Lys)
-?/. - c.723C>G likely benign r.(=) p.(=)
-?/. - c.723del likely benign r.(?) p.(Glu242Serfs*24)
+?/. - c.725A>G likely pathogenic r.(?) p.(Glu242Gly)
+/. - c.740C>T pathogenic r.(?) p.(Ser247Leu)
+/. 4 c.746T>C - r.(?) p.(Leu249Pro)
+/. - c.758T>C pathogenic r.(?) p.(Leu253Pro)
+/. 4 c.760C>G - r.(?) p.(Arg254Gly)
+?/. 4 c.763A>G - r.(?) p.(Arg255Gly)
+/. - c.763A>G pathogenic r.(?) p.(Arg255Gly)
+/. 4 c.763A>G - r.(?) p.(Arg255Gly)
+/. 5 c.785G>A - r.(?) p.(Gly262Glu)
-?/. - c.979G>A likely benign r.(?) p.(Asp327Asn)
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