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NM_033133.5(CNP):c.1034G>A (p.Gly345Asp) AND Myopia 2, autosomal dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 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:
RCV001072108.2

Allele description [Variation Report for NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)]

NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)

Gene:
CNP:2',3'-cyclic nucleotide 3' phosphodiesterase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)
HGVS:
  • NC_000017.11:g.41973692G>A
  • NM_001330216.2:c.974G>A
  • NM_033133.5:c.1034G>AMANE SELECT
  • NP_001317145.1:p.Gly325Asp
  • NP_149124.3:p.Gly345Asp
  • NC_000017.10:g.40125710G>A
  • NM_033133.4:c.1034G>A
  • p.Gly345Asp
Protein change:
G325D
Links:
dbSNP: rs2051026773
NCBI 1000 Genomes Browser:
rs2051026773
Molecular consequence:
  • NM_001330216.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033133.5:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myopia 2, autosomal dominant
Synonyms:
MYP2
Identifiers:
MONDO: MONDO:0008053; MedGen: C1834531; OMIM: 160700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001194316Department of Animal Sciences, Quaid-i-Azam University
no assertion criteria provided
Pathogenic
(Oct 14, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chineseinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Animal Sciences, Quaid-i-Azam University, SCV001194316.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedresearchnot provided

Description

The variant was detected in sporadic case from Chinese population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022