Unique variants in gene PROKR2

Information The variants shown are described using the NM_144773.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

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.-48C>T benign r.(?) p.(=) g.5295063G>A - PROKR2(NM_144773.2):c.-48C>T (p.=) - PROKR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.58del pathogenic r.(?) p.(His20Metfs*24) g.5294959del - PROKR2(NM_144773.3):c.58del (p.His20fs) - PROKR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/., ?/. 4 - c.151G>A benign, likely benign, VUS r.(?) p.(Ala51Thr) g.5294865C>T - PROKR2(NM_144773.2):c.151G>A (p.Ala51Thr) 46,XY PROKR2_000017 VKGL data sharing initiative Nederland PubMed: Eggers 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Nijmegen, Johan den Dunnen
?/. 1 - c.208G>A VUS r.(?) p.(Gly70Ser) g.5294808C>T - PROKR2(NM_144773.2):c.208G>A (p.Gly70Ser) - PROKR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., ?/. 2 - c.254G>A likely pathogenic, VUS r.(?) p.(Arg85His) g.5294762C>T - PROKR2(NM_144773):c.254G>A (p.Arg85His) - PROKR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.254G>T pathogenic r.(?) p.(Arg85Leu) g.5294762C>A - PROKR2(NM_144773):c.254G>T (p.Arg85Leu) - PROKR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.465C>T benign r.(?) p.(=) g.5283376G>A - PROKR2(NM_144773.2):c.465C>T (p.=) - PROKR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/., +/., ?/. 4 2 c.518T>G likely pathogenic, pathogenic, VUS r.(?) p.(Leu173Arg) g.5283323A>C g.5302677A>C PROKR2(NM_144773):c.518T>G (p.Leu173Arg) 46,XY PROKR2_000002 VKGL data sharing initiative Nederland, father negative PubMed: Eggers 2016 - rs74315416 CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Anna Alkelai, VKGL-NL_Rotterdam, Johan den Dunnen
-?/. 1 - c.522C>T likely benign r.(?) p.(=) g.5283319G>A - PROKR2(NM_144773.3):c.522C>T (p.I174=) - PROKR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.525C>G benign r.(?) p.(=) g.5283316G>C - PROKR2(NM_144773.2):c.525C>G (p.=) - PROKR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.554C>T VUS r.(?) p.(Ala185Val) g.5283287G>A - PROKR2(NM_144773.2):c.554C>T (p.Ala185Val) - PROKR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 - c.563C>T VUS r.(?) p.(Ser188Leu) g.5283278G>A - - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.585G>C benign r.(?) p.(=) g.5283256C>G - PROKR2(NM_144773.3):c.585G>C (p.T195=) - PROKR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.604A>G likely benign r.(?) p.(Ser202Gly) g.5283237T>C - PROKR2(NM_144773.3):c.604A>G (p.S202G) - PROKR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.747G>C likely benign r.(?) p.(Glu249Asp) g.5283094C>G - PROKR2(NM_144773.2):c.747G>C (p.(Glu249Asp)) - chr20_002377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., +/. 3 2 c.802C>T likely benign r.(?) p.(Arg268Cys) g.5283039G>A g.5302393G>A PROKR2(NM_144773.2):c.802C>T (p.(Arg268Cys)), R268C - PROKR2_000001 VKGL data sharing initiative Nederland PubMed: Hanchate 2012, Journal: Hanchate 2012 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
?/. 1 - c.809G>A VUS r.(?) p.(Arg270His) g.5283032C>T - PROKR2(NM_144773.2):c.809G>A (p.Arg270His) - PROKR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.868C>T pathogenic r.(?) p.(Pro290Ser) g.5282973G>A - PROKR2(NM_144773.2):c.868C>T (p.(Pro290Ser)) - chr20_002376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.991G>A likely benign r.(?) p.(Val331Met) g.5282850C>T - PROKR2(NM_144773.2):c.991G>A (p.(Val331Met)) - chr20_002375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1054T>G VUS r.(?) p.(Trp352Gly) g.5282787A>C - - 46,XY PROKR2_000015 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
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