Transcript #00001727

Transcript name transcript variant 2
Gene name JAM3 (junctional adhesion molecule 3)
Chromosome 11
Transcript - NCBI ID NM_001205329.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001192258.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.76+5G>T VUS r.spl? p.?
-/. - c.256+57A>G benign r.(=) p.(=)
-/. - c.257-523G>A benign r.(=) p.(=)
+?/. - c.257-462G>A likely pathogenic r.(=) p.(=)
-/. - c.257-14_257-13insCT benign r.(=) p.(=)
-?/. - c.257-14_257-13insCT likely benign r.(=) p.(=)
-/. - c.257-14_257-13insCTT benign r.(=) p.(=)
-?/. - c.460-12T>A likely benign r.(=) p.(=)
?/. - c.671A>G VUS r.(?) p.(Asn224Ser)
-/. - c.690-3T>C benign r.spl? p.?
-/. - c.690-3T>C benign r.spl? p.?
?/. - c.743_744+1del VUS r.spl? p.?
Legend