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NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) AND Progressive cone dystrophy (without rod involvement)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 1, 2018
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:
RCV000787614.3

Allele description [Variation Report for NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)]

NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
Other names:
NP_000171.1:p.(Arg838His)
HGVS:
  • NC_000017.11:g.8014701G>A
  • NG_009092.1:g.17032G>A
  • NM_000180.4:c.2513G>AMANE SELECT
  • NP_000171.1:p.Arg838His
  • NP_000171.1:p.Arg838His
  • NC_000017.10:g.7918019G>A
  • NM_000180.3:c.2513G>A
  • Q02846:p.Arg838His
Protein change:
R838H; ARG838HIS
Links:
UniProtKB: Q02846#VAR_015373; OMIM: 600179.0008; dbSNP: rs61750173
NCBI 1000 Genomes Browser:
rs61750173
Molecular consequence:
  • NM_000180.4:c.2513G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive cone dystrophy (without rod involvement)
Identifiers:
MedGen: C0271092

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926598Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD
no assertion criteria provided
Uncertain significance
(Apr 1, 2018) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926598.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024