All transcript variants in gene PROKR2

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

23 entries on 1 page. Showing entries 1 - 23.
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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.-48C>T benign r.(=) p.(=) g.5295063G>A - PROKR2:NM_144773.2:c.-48C>T (=) - PROKR2_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.58del pathogenic r.(?) p.(His20Metfs*24) g.5294958del - PROKR2:NM_144773.3:c.58del (His20fs) - PROKR2_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.151G>A VUS r.(?) p.(Ala51Thr) g.5294865C>T - - 46,XY PROKR2_000017 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.208G>A VUS r.(?) p.(Gly70Ser) g.5294808C>T - PROKR2:NM_144773.2:c.208G>A (Gly70Ser) - PROKR2_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.254G>A VUS r.(?) p.(Arg85His) g.5294762C>T - PROKR2:NM_144773:c.254G>A (Arg85His) - PROKR2_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.254G>T pathogenic r.(?) p.(Arg85Leu) g.5294762C>A - PROKR2:NM_144773:c.254G>T (Arg85Leu) - PROKR2_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.465C>T benign r.(=) p.(=) g.5283376G>A - PROKR2:NM_144773.2:c.465C>T (=) - PROKR2_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 2 c.518T>G - r.(?) p.(Leu173Arg) g.5283323A>C g.5302677A>C - - PROKR2_000002 - - - rs74315416 Germline yes - - 0 - Anna Alkelai
+?/. - c.518T>G likely pathogenic r.(?) p.(Leu173Arg) g.5283323A>C - PROKR2:NM_144773:c.518T>G (Leu173Arg) - PROKR2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.518T>G VUS r.(?) p.(Leu173Arg) g.5283323A>C - - 46,XY PROKR2_000002 father negative PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.522C>T likely benign r.(=) p.(=) g.5283319G>A - PROKR2:c.522C>T (I174=) - PROKR2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.525C>G benign r.(=) p.(=) g.5283316G>C - PROKR2:NM_144773.2:c.525C>G (=) - PROKR2_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.554C>T VUS r.(?) p.(Ala185Val) g.5283287G>A - PROKR2:NM_144773.2:c.554C>T (Ala185Val) - PROKR2_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.563C>T VUS r.(?) p.(Ser188Leu) g.5283278G>A - - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.563C>T VUS r.(?) p.(Ser188Leu) g.5283278G>A - - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.563C>T VUS r.(?) p.(Ser188Leu) g.5283278G>A - - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
-/. - c.585G>C benign r.(=) p.(=) g.5283256C>G - PROKR2:c.585G>C (=) - PROKR2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.585G>C benign r.(=) p.(=) g.5283256C>G - PROKR2:NM_144773.2:c.585G>C (=) - PROKR2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.604A>G likely benign r.(?) p.(Ser202Gly) g.5283237T>C - PROKR2:c.604A>G (S202G) - PROKR2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2 c.802C>T - r.(?) p.(Arg268Cys) g.5283039G>A g.5302393G>A R268C - PROKR2_000001 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.802C>T - r.(?) p.(Arg268Cys) g.5283039G>A g.5302393G>A R268C - PROKR2_000001 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.809G>A VUS r.(?) p.(Arg270His) g.5283032C>T - PROKR2:NM_144773.2:c.809G>A (Arg270His) - PROKR2_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1054T>G VUS r.(?) p.(Trp352Gly) g.5282787A>C - - 46,XY PROKR2_000015 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
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