Transcript #00008525

Transcript name GIPC PDZ domain containing family, member 3
Gene name GIPC3 (GIPC PDZ domain containing family, member 3)
Chromosome 19
Transcript - NCBI ID NM_133261.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_573568.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.69G>A likely benign r.(?) p.(=)
?/. - c.245A>G VUS r.(?) p.(Asn82Ser)
?/. - c.326A>G VUS r.(?) p.(Glu109Gly)
+?/. - c.412-1G>T ACMG: 4 r.spl? p.?
-?/. - c.706-9T>G likely benign r.(=) p.(=)
?/. - c.773G>A VUS r.(?) p.(Arg258Gln)
?/. - c.788-9G>A VUS r.(=) p.(=)
?/. - c.838G>C VUS r.(?) p.(Ala280Pro)
+?/. - c.838G>C likely pathogenic r.(?) p.(Ala280Pro)
-?/. - c.856G>A likely benign r.(?) p.(Val286Ile)
?/. - c.871G>A VUS r.(?) p.(Ala291Thr)
-?/. - c.923G>C likely benign r.(?) p.(Arg308Thr)
-/. - c.*4905dup benign r.(?) p.(=)
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