Full data view for gene GRK1

Information The variants shown are described using the NM_002929.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.614C>A r.(?) p.(Ser205*) Both (homozygous) - VUS g.114322315C>A - c.614C>A - GRK1_000048 - PubMed: Azam-2011 - - Unknown - - - - - DNA arraySNP - - retinal disease - PubMed: Azam-2011 - - yes Pakistan pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs retinal disease IV-1 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs retinal disease IV-2 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA arraySNP, SEQ blood Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs retinal disease IV-3 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs retinal disease V-9 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs retinal disease V-10 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA arraySNP, RFLP, SEQ blood Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs retinal disease V-11 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA RFLP blood - retinal disease V-1 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
+?/. - c.614C>A r.(?) p.(Ser205*) Both (homozygous) - likely pathogenic (recessive) g.114322315C>A g.113668000C>A GRK1 c.614C>A; p.S205X - GRK1_000048 homozygous PubMed: Azam 2009 - - Germline yes - - - - DNA RFLP blood - retinal disease V-5 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - 1 LOVD
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