All variants in the PROKR2 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

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     
?/. - c.563C>T r.(?) p.(Ser188Leu) - VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.563C>T r.(?) p.(Ser188Leu) - VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.563C>T r.(?) p.(Ser188Leu) - VUS g.5283278G>A g.5302632G>A - 46,XY PROKR2_000016 - PubMed: Eggers 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.563C>T r.(?) p.(Ser188Leu) - likely pathogenic g.5283278G>A g.5302632G>A - - PROKR2_000016 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs376239580 Germline - 8/2795 individuals - 0 - Mohammed Faruq
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