All transcript variants in gene GIPC3

Information The variants shown are described using the NM_133261.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.69G>A likely benign r.(?) p.(=) g.3585664G>A - GIPC3(NM_133261.2):c.69G>A (p.A23=) - GIPC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.245A>G VUS r.(?) p.(Asn82Ser) g.3586512A>G - - - GIPC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.326A>G VUS r.(?) p.(Glu109Gly) g.3586593A>G - - - GIPC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.412-1G>T ACMG: 4 r.spl? p.? g.3586811G>T g.3586813G>T - - GIPC3_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
-?/. - c.706-9T>G likely benign r.(=) p.(=) g.3589820T>G - GIPC3(NM_133261.2):c.706-9T>G - GIPC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.773G>A VUS r.(?) p.(Arg258Gln) g.3589896G>A - GIPC3(NM_133261.2):c.773G>A (p.R258Q) - GIPC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.788-9G>A VUS r.(=) p.(=) g.3590028G>A - GIPC3(NM_133261.2):c.788-9G>A - GIPC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.838G>C VUS r.(?) p.(Ala280Pro) g.3590087G>C - GIPC3(NM_133261.2):c.838G>C (p.A280P) - GIPC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.838G>C likely pathogenic r.(?) p.(Ala280Pro) g.3590087G>C - GIPC3(NM_133261.2):c.838G>C (p.A280P) - GIPC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.856G>A likely benign r.(?) p.(Val286Ile) g.3590105G>A - GIPC3(NM_133261.2):c.856G>A (p.V286I) - GIPC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.871G>A VUS r.(?) p.(Ala291Thr) g.3590120G>A - - - GIPC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.923G>C likely benign r.(?) p.(Arg308Thr) g.3590172G>C - GIPC3(NM_133261.2):c.923G>C (p.R308T) - GIPC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*4905dup benign r.(?) p.(=) g.3595093dup - TBXA2R(NM_001060.5):c.*609dupT - GIPC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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