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NM_001920.5(DCN):c.1036T>G (p.Cys346Gly) AND Congenital stromal corneal dystrophy

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003330046.1

Allele description [Variation Report for NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)]

NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)

Gene:
DCN:decorin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.33
Genomic location:
Preferred name:
NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)
HGVS:
  • NC_000012.12:g.91146102A>C
  • NG_011672.1:g.41928T>G
  • NG_011672.2:g.41715T>G
  • NM_001920.5:c.1036T>GMANE SELECT
  • NM_133503.4:c.1036T>G
  • NM_133504.3:c.709T>G
  • NM_133505.3:c.595T>G
  • NM_133506.3:c.475T>G
  • NM_133507.3:c.*134T>G
  • NP_001911.1:p.Cys346Gly
  • NP_598010.1:p.Cys346Gly
  • NP_598011.1:p.Cys237Gly
  • NP_598012.1:p.Cys199Gly
  • NP_598013.1:p.Cys159Gly
  • NC_000012.11:g.91539879A>C
  • NM_001920.3:c.1036T>G
Protein change:
C159G
Molecular consequence:
  • NM_133507.3:c.*134T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001920.5:c.1036T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133503.4:c.1036T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133504.3:c.709T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133505.3:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133506.3:c.475T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital stromal corneal dystrophy (CSCD)
Identifiers:
MONDO: MONDO:0012401; MedGen: C1864738; Orphanet: 101068; OMIM: 610048

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004037025GeneReviews
no classification provided
not providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family.

Lee JH, Ki CS, Chung ES, Chung TY.

Korean J Ophthalmol. 2012 Aug;26(4):301-5. doi: 10.3341/kjo.2012.26.4.301. Epub 2012 Jul 24.

PubMed [citation]
PMID:
22870031
PMCID:
PMC3408537

Details of each submission

From GeneReviews, SCV004037025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 30, 2023