Unique variants in gene PGAP2

Information The variants shown are described using the NM_001256240.1 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+?/., +/. 2 2 c.2T>G r.(?) p.(Met1?) - - g.3832491T>G g.3811261T>G - - PGAP2_000010 - PubMed: Jezela-Stanek et al. 2016, PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Philippe Campeau, Johan den Dunnen
+/. 1 - c.46C>T r.(?) p.(Arg16Trp) - - g.3832535C>T g.3811305C>T - - PGAP2_000003 1 more item PubMed: Krawitz et al 2013 - - Germline yes - - - - Philippe Campeau
?/. 1 - c.53G>A r.(?) p.(Arg18His) - VUS g.3832542G>A g.3811312G>A PGAP2(NM_001256236.1):c.224G>A (p.R75H) - NUP98_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.165+5945T>C r.(=) p.(=) - VUS g.3838599T>C g.3817369T>C PGAP2(NM_001256236.1):c.353T>C (p.M118T) - PGAP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.165+6112G>A r.(=) p.(=) - VUS g.3838766G>A g.3817536G>A PGAP2(NM_001256236.1):c.519+1G>A - PGAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 - c.191C>T r.? p.(Ala64Val) - - g.3845138C>T - c.191C>T - PGAP2_000012 1 more item PubMed: Naseer et al. 2016 - - Germline - - - - - Philippe Campeau
+?/. 1 - c.220C>T r.(?) p.(Arg74Cys) - likely pathogenic g.3845167C>T g.3823937C>T - - PGAP2_000015 - - - - Unknown - - - - - IMGAG
+?/., +/. 2 3 c.221G>A r.(?) p.(Arg74His) - - g.3845168G>A g.3823938G>A - - PGAP2_000011 - PubMed: Jezela-Stanek et al. 2016, PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Philippe Campeau, Johan den Dunnen
./. 1 - c.296A>G r.(?) p.(Tyr99Cys) - - g.3845243A>G g.3824013A>G - - PGAP2_000001 1 more item PubMed: Hansen et al. 2013 - - Germline yes - - - - Philippe Campeau
+/. 1 - c.380T>C r.(?) p.(Leu127Ser) - - g.3845327T>C g.3824097T>C - - PGAP2_000005 1 more item PubMed: Krawitz et al 2013 - - Germline yes - - - - Philippe Campeau
+/. 1 - c.479C>T r.(?) p.(Thr160Ile) - - g.3845560C>T g.3824330C>T - - PGAP2_000004 1 more item PubMed: Krawitz et al 2013 - - Germline yes - - - - Philippe Campeau
?/. 1 - c.525+71C>T r.(=) p.(=) - VUS g.3845677C>T g.3824447C>T PGAP2(NM_001256237.1):c.767C>T (p.S256L) - PGAP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.530G>C r.(?) p.(Arg177Pro) - - g.3846254G>C g.3825024G>C - - PGAP2_000002 1 more item PubMed: Hansen et al 2013 - - Germline yes - - - - Philippe Campeau
+/. 4 - c.554G>A r.(?) p.(Arg185Gln) - - g.3846278G>A g.3825048G>A NM_001256240.1:c.554G>A, p.(Arg185Gln) - PGAP2_000013 1 more item - - rs745521288 Germline - 0.00000824 in dbSNP. In ExAC database: allele frequency of 0.000008122 - - - Philippe Campeau
+/. 1 - c.560C>T r.(?) p.Ala187Val - - g.3846284C>T - - - PGAP2_000014 1 more item - - - Germline - - - - - Philippe Campeau
?/. 1 - c.567C>T r.(?) p.(Ile189=) - VUS g.3846291C>T g.3825061C>T PGAP2(NM_001256237.1):c.817C>T (p.Q273*) - NUP98_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.631G>C r.(?) p.(Gly211Arg) - VUS g.3846355G>C g.3825125G>C - - NUP98_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.635T>C r.(?) p.(Val212Ala) - VUS g.3846558T>C g.3825328T>C PGAP2(NM_001256236.1):c.989T>C (p.V330A) - PGAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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