Full data view for gene GPR98


This database is one of the ”Retinal and hearing impairment genetic variant databases”. NOTE: gene symbol was recently changed from GPR98 to ADGRV1.
Information The variants shown are described using the NM_032119.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Besnard 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Besnard 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - Turkey - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - Turkey - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Besnard 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Unknown - benign g.89979589G>A g.90683772G>A - - GPR98_000161 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Unknown - benign g.89979589G>A g.90683772G>A - - GPR98_000161 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Unknown - benign g.89979589G>A g.90683772G>A - - GPR98_000161 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Unknown - benign g.89979589G>A g.90683772G>A - - GPR98_000161 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Besnard, Garcia-Garcia 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Unknown - benign g.89979589G>A g.90683772G>A - - GPR98_000161 heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Paternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 28 c.5851G>A r.(?) p.(Val1951Ile) - Maternal (inferred) - benign g.89979589G>A g.90683772G>A - - GPR98_000161 homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs4916684 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/. - c.5851G>A r.(?) p.(Val1951Ile) - Unknown - benign g.89979589G>A g.90683772G>A ADGRV1(NM_032119.4):c.5851G>A (p.V1951I) - GPR98_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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