Transcript #00000268

Transcript name transcript variant 1
Gene name JAM3 (junctional adhesion molecule 3)
Chromosome 11
Transcript - NCBI ID NM_032801.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_116190.3
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 c.2T>G - r.(?) p.0?
?/. - c.76+5G>T VUS r.spl? p.?
-/. - c.256+57A>G benign r.(=) p.(=)
-/. - c.285G>A benign r.(?) p.(=)
+?/? 4 c.346G>A - r.(?) p.(Glu116Lys)
+?/. - c.346G>A likely pathogenic r.(?) p.(Glu116Lys)
-/. - c.410-14_410-13insCT benign r.(=) p.(=)
-?/. - c.410-14_410-13insCT likely benign r.(=) p.(=)
-/. - c.410-14_410-13insCTT benign r.(=) p.(=)
+/? 5i c.612+1G>T - r.612_613ins612+1_612+19{612+1g>t} p.Val205Leufs26*
-?/. - c.613-12T>A likely benign r.(=) p.(=)
+?/? 6 c.656G>A - r.(?) p.(Cys219Tyr)
?/. - c.824A>G VUS r.(?) p.(Asn275Ser)
-/. - c.843-3T>C benign r.spl? p.?
-/. - c.843-3T>C benign r.spl? p.?
-?/. - c.851A>T likely benign r.(?) p.(Asn284Ile)
?/. - c.896_897+1del VUS r.spl? p.?
-?/. - c.*4100G>T likely benign r.(=) p.(=)
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