All variants in the GRHPR gene

Information The variants shown are described using the NM_012203.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.579A>G r.(?) p.(Ala193=) - benign g.37429814A>G g.37429817A>G GRHPR(NM_012203.1):c.579A>G (p.A193=) - GRHPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.579A>G r.(?) p.(Ala193=) - benign g.37429814A>G g.37429817A>G GRHPR(NM_012203.1):c.579A>G (p.A193=) - GRHPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.579A>G r.(?) p.(Ala193=) - benign g.37429814A>G g.37429817A>G - - GRHPR_000005 - PubMed: Koroglu 2017 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query