Full data view for gene PROKR2

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

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-48C>T r.(?) p.(=) Unknown - benign g.5295063G>A g.5314417G>A - - PROKR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.58del r.(?) p.(His20MetfsTer24) Unknown - pathogenic g.5294959del g.5314313del - - PROKR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.151G>A r.(?) p.(Ala51Thr) Parent #1 - VUS g.5294865C>T g.5314219C>T - 46,XY PROKR2_000017 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat168 PubMed: Eggers 2016 - M - - - - 0 - - 1 Johan den Dunnen
-/. - c.151G>A r.(?) p.(Ala51Thr) Unknown - benign g.5294865C>T g.5314219C>T PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T) - PROKR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.151G>A r.(?) p.(Ala51Thr) Unknown - likely benign g.5294865C>T g.5314219C>T PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T) - PROKR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.151G>A r.(?) p.(Ala51Thr) Unknown - likely benign g.5294865C>T g.5314219C>T PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T) - PROKR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>A r.(?) p.(Gly70Ser) Unknown - VUS g.5294808C>T g.5314162C>T - - PROKR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.253C>T r.(?) p.(Arg85Cys) Unknown - VUS g.5294763G>A - PROKR2(NM_144773.3):c.253C>T (p.R85C) - PROKR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.253C>T r.(?) p.(Arg85Cys) Unknown - likely pathogenic g.5294763G>A - PROKR2(NM_144773.3):c.253C>T (p.R85C) - PROKR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254G>A r.(?) p.(Arg85His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.254G>A r.(?) p.(Arg85His) Unknown - likely pathogenic g.5294762C>T g.5314116C>T PROKR2(NM_144773.3):c.254G>A (p.R85H) - PROKR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.254G>T r.(?) p.(Arg85Leu) Unknown - pathogenic g.5294762C>A g.5314116C>A PROKR2(NM_144773.3):c.254G>T (p.R85L) - PROKR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.254G>T r.(?) p.(Arg85Leu) Parent #1 - likely benign g.5294762C>A g.5314116C>A - - PROKR2_000011 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs74315418 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.254G>T r.(?) p.(Arg85Leu) Unknown - VUS g.5294762C>A - PROKR2(NM_144773.3):c.254G>T (p.R85L) - PROKR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337T>C r.(?) p.(Tyr113His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.343G>A r.(?) p.(Val115Met) Parent #1 - pathogenic g.5294673C>T g.5314027C>T - - PROKR2_000021 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs138672528 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.465C>T r.(?) p.(Leu155=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.465C>T r.(?) p.(Leu155=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.518T>G r.(?) p.(Leu173Arg) Unknown - pathogenic g.5283323A>C g.5302677A>C - - PROKR2_000002 - - - rs74315416 Germline yes - - 0 - DNA SEQ-NG-IT - - ANI - - - F;M no Israel Jewish - 0 - - 2 Anna Alkelai
+?/. - c.518T>G r.(?) p.(Leu173Arg) Unknown - likely pathogenic g.5283323A>C g.5302677A>C PROKR2(NM_144773.3):c.518T>G (p.L173R) - PROKR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.518T>G r.(?) p.(Leu173Arg) Maternal (confirmed) - VUS g.5283323A>C g.5302677A>C - 46,XY PROKR2_000002 father negative PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat89 PubMed: Eggers 2016 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.518T>G r.(?) p.(Leu173Arg) Unknown - pathogenic g.5283323A>C g.5302677A>C PROKR2(NM_144773.3):c.518T>G (p.L173R) - PROKR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Ile174=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.525C>G r.(?) p.(Ala175=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.525C>G r.(?) p.(Ala175=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554C>T r.(?) p.(Ala185Val) Unknown - VUS g.5283287G>A g.5302641G>A - - PROKR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.563C>T r.(?) p.(Ser188Leu) Parent #1 - VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat143 PubMed: Eggers 2016 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.563C>T r.(?) p.(Ser188Leu) Parent #1 - VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat173 PubMed: Eggers 2016 - M - - - - 0 - - 1 Johan den Dunnen
?/. - c.563C>T r.(?) p.(Ser188Leu) Parent #1 - VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat277 PubMed: Eggers 2016 - rF - - - - 0 - - 1 Johan den Dunnen
+?/. - c.563C>T r.(?) p.(Ser188Leu) Parent #1 - likely pathogenic g.5283278G>A g.5302632G>A - - PROKR2_000016 8 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs376239580 Germline - 8/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
-/. - c.585G>C r.(?) p.(Thr195=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.585G>C r.(?) p.(Thr195=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.585G>C r.(?) p.(Thr195=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604A>G r.(?) p.(Ser202Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.747G>C r.(?) p.(Glu249Asp) Unknown - VUS g.5283094C>G - PROKR2(NM_144773.3):c.747G>C (p.E249D) - PROKR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.802C>T r.(?) p.(Arg268Cys) Unknown - pathogenic g.5283039G>A g.5302393G>A R268C - PROKR2_000001 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.802C>T r.(?) p.(Arg268Cys) Unknown - pathogenic g.5283039G>A g.5302393G>A R268C - PROKR2_000001 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - 1 Johan den Dunnen
-/. - c.802C>T r.(?) p.(Arg268Cys) Unknown - benign g.5283039G>A g.5302393G>A PROKR2(NM_144773.3):c.802C>T (p.R268C) - PROKR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809G>A r.(?) p.(Arg270His) Unknown - VUS g.5283032C>T g.5302386C>T - - PROKR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.868C>T r.(?) p.(Pro290Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.991G>A r.(?) p.(Val331Met) Unknown - likely benign g.5282850C>T - PROKR2(NM_144773.3):c.991G>A (p.V331M) - PROKR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054T>G r.(?) p.(Trp352Gly) Parent #1 - VUS g.5282787A>C g.5302141A>C - 46,XY PROKR2_000015 - PubMed: Eggers 2016 - - Germline - - - 0 - DNA SEQ-NG - 1031 gene panel DSD Pat171 PubMed: Eggers 2016 - M - - - - 0 - - 1 Johan den Dunnen
-/. - c.1110C>T r.(?) p.(Asn370=) Unknown - benign g.5282731G>A - PROKR2(NM_144773.3):c.1110C>T (p.N370=) - PROKR2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122C>A r.(?) p.(Thr374=) Unknown - benign g.5282719G>T - PROKR2(NM_144773.3):c.1122C>A (p.T374=) - PROKR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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