Unique variants in the PROKR2 gene

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

25 entries on 1 page. Showing entries 1 - 25.
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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     
-/. 1 - c.-48C>T r.(?) p.(=) - benign g.5295063G>A g.5314417G>A - - PROKR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.58del r.(?) p.(His20MetfsTer24) - pathogenic g.5294959del g.5314313del - - PROKR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 4 - c.151G>A r.(?) p.(Ala51Thr) - benign, likely benign, VUS g.5294865C>T g.5314219C>T PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T) 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 r.(?) p.(Gly70Ser) - VUS g.5294808C>T g.5314162C>T - - PROKR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., +?/. 2 - c.253C>T r.(?) p.(Arg85Cys) - VUS, likely pathogenic g.5294763G>A - PROKR2(NM_144773.3):c.253C>T (p.R85C) - PROKR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/., ?/. 2 - c.254G>A r.(?) p.(Arg85His) - likely pathogenic, VUS g.5294762C>T g.5314116C>T PROKR2(NM_144773.3):c.254G>A (p.R85H) - PROKR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
+/., ?/., -?/. 3 - c.254G>T r.(?) p.(Arg85Leu) - pathogenic, VUS, likely benign g.5294762C>A g.5314116C>A PROKR2(NM_144773.3):c.254G>T (p.R85L) - PROKR2_000011 VKGL data sharing initiative Nederland, 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs74315418 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.337T>C r.(?) p.(Tyr113His) - VUS g.5294679A>G g.5314033A>G PROKR2(NM_144773.3):c.337T>C (p.Y113H) - PROKR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.343G>A r.(?) p.(Val115Met) - pathogenic g.5294673C>T g.5314027C>T - - PROKR2_000021 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs138672528 Germline - 2/2795 individuals - - - Mohammed Faruq
-/. 2 - c.465C>T r.(?) p.(Leu155=) - benign g.5283376G>A g.5302730G>A PROKR2(NM_144773.3):c.465C>T (p.L155=) - PROKR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/., +/., ?/. 4 2 c.518T>G r.(?) p.(Leu173Arg) - likely pathogenic, pathogenic, VUS g.5283323A>C g.5302677A>C PROKR2(NM_144773.3):c.518T>G (p.L173R) 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 r.(?) p.(Ile174=) - likely benign g.5283319G>A g.5302673G>A PROKR2(NM_144773.3):c.522C>T (p.I174=) - PROKR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.525C>G r.(?) p.(Ala175=) - benign g.5283316G>C g.5302670G>C PROKR2(NM_144773.3):c.525C>G (p.A175=) - PROKR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.554C>T r.(?) p.(Ala185Val) - VUS g.5283287G>A g.5302641G>A - - PROKR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 4 - c.563C>T r.(?) p.(Ser188Leu) - likely pathogenic, VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 8 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted, PubMed: Eggers 2016 - rs376239580 Germline - 8/2795 individuals - - - Mohammed Faruq, Johan den Dunnen
-/. 3 - c.585G>C r.(?) p.(Thr195=) - benign g.5283256C>G g.5302610C>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 r.(?) p.(Ser202Gly) - likely benign g.5283237T>C g.5302591T>C PROKR2(NM_144773.3):c.604A>G (p.S202G) - PROKR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.747G>C r.(?) p.(Glu249Asp) - VUS g.5283094C>G - PROKR2(NM_144773.3):c.747G>C (p.E249D) - PROKR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., -/. 3 2 c.802C>T r.(?) p.(Arg268Cys) - pathogenic, benign g.5283039G>A g.5302393G>A R268C, PROKR2(NM_144773.3):c.802C>T (p.R268C) - PROKR2_000001 VKGL data sharing initiative Nederland PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.809G>A r.(?) p.(Arg270His) - VUS g.5283032C>T g.5302386C>T - - PROKR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.868C>T r.(?) p.(Pro290Ser) - pathogenic g.5282973G>A g.5302327G>A PROKR2(NM_144773.2):c.868C>T (p.(Pro290Ser)) - PROKR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.991G>A r.(?) p.(Val331Met) - likely benign g.5282850C>T - PROKR2(NM_144773.3):c.991G>A (p.V331M) - PROKR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1054T>G r.(?) p.(Trp352Gly) - VUS g.5282787A>C g.5302141A>C - 46,XY PROKR2_000015 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1110C>T r.(?) p.(Asn370=) - benign g.5282731G>A - PROKR2(NM_144773.3):c.1110C>T (p.N370=) - PROKR2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1122C>A r.(?) p.(Thr374=) - benign g.5282719G>T - PROKR2(NM_144773.3):c.1122C>A (p.T374=) - PROKR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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