NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) AND Macular dystrophy

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000678541.1

Allele description [Variation Report for NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)]

NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)

Gene:
CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
HGVS:
  • NC_000002.12:g.98396449C>T
  • NG_009097.1:g.55295C>T
  • NM_001079878.2:c.1225C>T
  • NM_001298.3:c.1279C>TMANE SELECT
  • NP_001073347.1:p.Arg409Cys
  • NP_001289.1:p.Arg427Cys
  • NP_001289.1:p.Arg427Cys
  • NC_000002.11:g.99012912C>T
  • NM_001298.2:c.1279C>T
  • p.Arg427Cys
Protein change:
R409C
Links:
dbSNP: rs141386891
NCBI 1000 Genomes Browser:
rs141386891
Molecular consequence:
  • NM_001079878.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001298.3:c.1279C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Macular dystrophy
Identifiers:
MedGen: C0730292; Human Phenotype Ontology: HP:0007754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804618Human Genetics - Radboudumc,Radboudumcno assertion criteria providedUncertain significance
(Sep 1, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Human Genetics - Radboudumc,Radboudumc, SCV000804618.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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