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NM_002929.3(GRK1):c.595G>C (p.Gly199Arg) AND Oguchi disease-2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 20, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001175391.1

Allele description [Variation Report for NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)]

NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)

Gene:
GRK1:G protein-coupled receptor kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)
HGVS:
  • NC_000013.11:g.113667981G>C
  • NM_002929.3:c.595G>CMANE SELECT
  • NP_002920.1:p.Gly199Arg
  • NC_000013.10:g.114322296G>C
Protein change:
G199R
Links:
dbSNP: rs2049830881
NCBI 1000 Genomes Browser:
rs2049830881
Molecular consequence:
  • NM_002929.3:c.595G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oguchi disease-2
Synonyms:
NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2
Identifiers:
MONDO: MONDO:0013259; MedGen: C3150678; Orphanet: 75382; OMIM: 613411

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245348Molecular Medicine, University of Leeds
no assertion criteria provided
Likely pathogenic
(Feb 20, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot provided1not providednot providednot providedresearch

Details of each submission

From Molecular Medicine, University of Leeds, SCV001245348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Apr 23, 2022