Full data view for gene GRHPR

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

13 entries on 1 page. Showing entries 1 - 13.
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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.103del r.(?) p.(Asp35Thrfs*11) Unknown - VUS g.37424861del g.37424864del - - GRHPR_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.37424907C>T - GRHPR(NM_012203.1):c.149C>T (p.A50V) - GRHPR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181G>A r.(?) p.(Asp61Asn) Unknown - VUS g.37424939G>A g.37424942G>A - - GRHPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.288-11C>T r.(=) p.(=) Unknown - benign g.37426524C>T g.37426527C>T GRHPR(NM_012203.1):c.288-11C>T - GRHPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.288-11C>T r.(=) p.(=) Unknown - benign g.37426524C>T g.37426527C>T GRHPR(NM_012203.1):c.288-11C>T - GRHPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.337G>A r.(?) p.(Glu113Lys) Parent #1 - likely pathogenic g.37426584G>A g.37426587G>A - - GRHPR_000007 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs180177307 Germline - 6/2766 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
-/. - c.494-68A>G r.(=) p.(=) Unknown - benign g.37429661A>G g.37429664A>G GRHPR(NM_012203.1):c.494-68A>G - GRHPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.512G>A r.(?) p.(Arg171His) Parent #1 - VUS g.37429747G>A g.37429750G>A - - GRHPR_000008 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200106110 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-/. - c.579A>G r.(?) p.(Ala193=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.579A>G r.(?) p.(Ala193=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
./. - c.579A>G r.(?) p.(Ala193=) Both (homozygous) - benign g.37429814A>G g.37429817A>G - - GRHPR_000005 - PubMed: Koroglu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ALS 29086072-FamPat504 PubMed: Koroglu 2017 Pat504 M yes Turkey - - 0 - - 1 Johan den Dunnen
?/. - c.905G>A r.(?) p.(Arg302His) Unknown - VUS g.37436697G>A - GRHPR(NM_012203.1):c.905G>A (p.R302H) - GRHPR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963G>A r.(?) p.(Pro321=) Unknown - benign g.37436755G>A g.37436758G>A GRHPR(NM_012203.1):c.963G>A (p.P321=) - GRHPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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