All transcript variants in gene JAM3

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/? 1 c.2T>G - r.(?) p.0? g.133938980T>G g.134069085T>G - - JAM3_000001 - - - - Germline yes - - - - Nadia Nakawi
?/. - c.76+5G>T VUS r.spl? p.? g.133939059G>T - JAM3(NM_032801.4):c.76+5G>T - JAM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.256+57A>G benign r.(=) p.(=) g.134010722A>G - JAM3(NM_032801.4):c.256+57A>G - JAM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.285G>A benign r.(?) p.(=) g.134014164G>A - JAM3(NM_032801.4):c.285G>A (p.L95=) - JAM3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/? 4 c.346G>A - r.(?) p.(Glu116Lys) g.134014225G>A g.134144330G>A - - JAM3_000002 - - - - Germline yes - - - - Nadia Nakawi
+?/. - c.346G>A likely pathogenic r.(?) p.(Glu116Lys) g.134014225G>A - JAM3(NM_032801.4):c.346G>A (p.Glu116Lys) - JAM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.410-14_410-13insCT benign r.(=) p.(=) g.134014673_134014674insCT - JAM3(NM_032801.4):c.410-14_410-13insCT - JAM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.410-14_410-13insCT likely benign r.(=) p.(=) g.134014673_134014674insCT - JAM3(NM_032801.4):c.410-14_410-13insCT - JAM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.410-14_410-13insCTT benign r.(=) p.(=) g.134014673_134014674insCTT - JAM3(NM_032801.4):c.410-14_410-13insCTT - JAM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 5i c.612+1G>T - r.612_613ins612+1_612+19{612+1g>t} p.Val205Leufs26* g.134014890G>T g.134144995G>T c.747+1G>T - JAM3_000004 - PubMed: Mochida 2010 - - Germline yes - - - - Nadia Nakawi
-?/. - c.613-12T>A likely benign r.(=) p.(=) g.134015829T>A - JAM3(NM_032801.4):c.613-12T>A - JAM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/? 6 c.656G>A - r.(?) p.(Cys219Tyr) g.134015884G>A g.134145989G>A - - JAM3_000003 affects protein traficking - - - Germline yes - - - - Nadia Nakawi
?/. - c.824A>G VUS r.(?) p.(Asn275Ser) g.134018553A>G - JAM3(NM_001205329.1):c.671A>G (p.(Asn224Ser), p.(Asn275Ser)) - JAM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.843-3T>C benign r.spl? p.? g.134018656T>C - JAM3(NM_032801.4):c.843-3T>C - JAM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.843-3T>C benign r.spl? p.? g.134018656T>C - JAM3(NM_032801.4):c.843-3T>C - JAM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.851A>T likely benign r.(?) p.(Asn284Ile) g.134018667A>T - JAM3(NM_001205329.1):c.698A>T (p.(Asn233Ile), p.(Asn284Ile)) - JAM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.896_897+1del VUS r.spl? p.? g.134018712_134018714del - JAM3(NM_032801.4):c.895_897delGAG (p.E299del) - JAM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*4100G>T likely benign r.(=) p.(=) g.134023176G>T - NCAPD3(NM_015261.2):c.4327+8C>A (p.(=)) - JAM3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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