Variant #0000372474 (NC_000005.9:g.89914925T>G, NM_032119.3:c.380T>G (GPR98))

Individual ID 00166665
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.89914925T>G
DNA change (hg38) g.90619108T>G
Published as -
ISCN -
DB-ID GPR98_000090 See all 3 reported entries
Variant remarks heterozygous; UV1
Reference PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d
ClinVar ID -
dbSNP ID rs41311333
Origin Germline
Segregation -
Frequency 2/90 controls
Re-site +HindIII;+AluI;+CviKI_1;
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03078 View details
Owner Maria Bitner-Glindzicz
Database submission license No license selected
Created by Maria Bitner-Glindzicz
Date created 2011-09-12 16:33:57 +02:00 (CEST)
Date last edited 2016-05-30 18:09:33 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
GPR98 NM_032119.3 -/- 4 c.380T>G r.(?) p.(Leu127Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167544 DNA SEQ - - - 8 Maria Bitner-Glindzicz


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