All transcript variants in gene JAM3

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
?/. - 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_Rotterdam
-/. - 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_AMC
-/. - c.257-523G>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_Rotterdam
+?/. - c.257-462G>A likely pathogenic r.(=) p.(=) g.134014225G>A - - - JAM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.257-14_257-13insCT 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.257-14_257-13insCT 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.257-14_257-13insCTT 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_Rotterdam
-?/. - c.460-12T>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_Rotterdam
?/. - c.671A>G VUS r.(?) p.(Asn224Ser) g.134018553A>G - JAM3(NM_001205329.1):c.671A>G (p.(Asn224Ser)) - JAM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.690-3T>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.690-3T>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.743_744+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_Rotterdam
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