Variant #0000373482 (NC_000005.9:g.90074880T>C, NM_032119.3:c.13048T>C (GPR98))

Individual ID 00167766
Chromosome 5
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.90074880T>C
DNA change (hg38) g.90779063T>C
Published as -
ISCN -
DB-ID GPR98_000293
Variant remarks heterozygous; mutation
Reference PubMed: Jiang 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d
ClinVar ID -
dbSNP ID rs760285250
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2015-10-06 09:45:12 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
GPR98 NM_032119.3 +?/? 64 c.13048T>C r.(?) p.(Ser4350Pro) Calx-beta 29 (4313-4353)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000168645 DNA SEQ;SEQ-NG-S - - - 2 Anne-Françoise Roux


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