Full data view for gene PROK2

Information The variants shown are described using the NM_001126128.1 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.68G>A r.(?) p.(Arg23His) Parent #1 - VUS g.71834136C>T g.71784985C>T - 46,XY PROK2_000007 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat47 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
?/. - c.68G>A r.(?) p.(Arg23His) Parent #1 - VUS g.71834136C>T g.71784985C>T - 46,XY PROK2_000007 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat165 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
-/. - c.84C>G r.(?) p.(Ala28=) Unknown - benign g.71834120G>C g.71784969G>C PROK2(NM_001126128.2):c.84C>G (p.A28=) - PROK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84C>G r.(?) p.(Ala28=) Unknown - likely benign g.71834120G>C g.71784969G>C PROK2(NM_001126128.2):c.84C>G (p.A28=) - PROK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ile55Ter) Unknown - pathogenic g.71830677del g.71781526del PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*) - PROK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ile55Ter) Unknown - pathogenic g.71830677del g.71781526del PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*) - PROK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ile55Ter) Unknown - pathogenic g.71830677del - PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*) - PROK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.163del r.(?) p.(Ile55Ter) Unknown - likely pathogenic g.71830677del - PROK2(NM_001126128.1):c.163delA (p.(Ile55fs)), PROK2(NM_001126128.2):c.163delA (p.I55*) - PROK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(=) Unknown - benign g.71830666G>A - PROK2(NM_001126128.2):c.174C>T (p.C58=) - PROK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.(208_209del) r.(?) p.(Pro70Thrfs*4) Unknown - pathogenic g.(71830631_71830632del) g.71781480_71781481del H70fsX5 - PROK2_000000 Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - - - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected F - France - - - - - 1 Johan den Dunnen
?/. - c.217C>T r.(?) p.(Arg73Cys) Unknown - VUS g.71830623G>A - PROK2(NM_001126128.1):c.217C>T (p.(Arg73Cys)), PROK2(NM_001126128.2):c.217C>T (p.R73C) - PROK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217C>T r.(?) p.(Arg73Cys) Unknown - pathogenic g.71830623G>A - PROK2(NM_001126128.1):c.217C>T (p.(Arg73Cys)), PROK2(NM_001126128.2):c.217C>T (p.R73C) - PROK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285+14G>A r.(=) p.(=) Unknown - benign g.71823582C>T g.71774431C>T PROK2(NM_001126128.2):c.285+14G>A - PROK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285+14G>A r.(=) p.(=) Unknown - benign g.71823582C>T g.71774431C>T PROK2(NM_001126128.2):c.285+14G>A - PROK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.297dup r.(?) p.(Gly100TrpfsTer22) Unknown - VUS g.71821973dup - PROK2(NM_001126128.2):c.297dup (p.(Gly100TrpfsTer22)) - PROK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301C>T r.(?) p.(Arg101Trp) Unknown - VUS g.71821964G>A - PROK2(NM_001126128.2):c.301C>T (p.(Arg101Trp)) - PROK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.309G>A r.(?) p.(Met103Ile) Unknown - VUS g.71821956C>T g.71772805C>T - - PROK2_000001 - - - - Germline ? - - - - DNA SEQ-NG-IT - - ANI - - - M ? Israel Jewish - - - - 1 Anna Alkelai
?/. - c.364C>T r.(?) p.(Arg122Ter) Unknown - VUS g.71821901G>A g.71772750G>A - - PROK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*904G>A r.(=) p.(=) Unknown - likely benign g.71820971C>T g.71771820C>T PROK2(NM_021935.4):c.*904G>A - PROK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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