Full data view for gene PROKR2

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.563C>T VUS r.(?) p.(Ser188Leu) Parent #1 g.5283278G>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 VUS r.(?) p.(Ser188Leu) Parent #1 g.5283278G>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 VUS r.(?) p.(Ser188Leu) Parent #1 g.5283278G>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
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