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NM_002900.2(RBP3):c.1778T>C (p.Val593Ala)

Variation ID: Help
208309
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 27, 2013
Number of submission(s):
1
Condition(s):
Retinitis pigmentosa 66[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_002900.2(RBP3):c.1778T>C (p.Val593Ala)

Allele ID:
204550
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.22
Genomic location:
  • Chr10: 47350262 (on Assembly GRCh38)
  • Chr10: 48389100 (on Assembly GRCh37)
Protein change:
V593A
HGVS:
  • NG_029718.1:g.6892T>C
  • NM_002900.2:c.1778T>C
  • NP_002891.1:p.Val593Ala
  • NC_000010.11:g.47350262T>C (GRCh38)
  • NC_000010.10:g.48389100A>G (GRCh37)
  • P10745:p.Val593Ala
Links:
NCBI 1000 Genomes Browser:
rs782233167
Molecular consequence:
NM_002900.2:c.1778T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00001
  • Trans-Omics for Precision Medicine (TOPMed) 0.00001

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Jun 27, 2013)
no assertion criteria providedliterature onlygermlineClinVar Staff, National Center for Biotechnology Information (NCBI)SCV000244058.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
ClinVar Staff, National Center for Biotechnology Information (NCBI)not providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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