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NM_001298.3(CNGA3):c.101+1G>A AND Cone-rod dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 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:
RCV002267730.8

Allele description [Variation Report for NM_001298.3(CNGA3):c.101+1G>A]

NM_001298.3(CNGA3):c.101+1G>A

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.101+1G>A
HGVS:
  • NC_000002.12:g.98370077G>A
  • NG_009097.1:g.28923G>A
  • NM_001079878.2:c.101+1G>A
  • NM_001298.3:c.101+1G>AMANE SELECT
  • NC_000002.11:g.98986540G>A
  • NM_001298.2:c.101+1G>A
Links:
dbSNP: rs147118493
NCBI 1000 Genomes Browser:
rs147118493
Molecular consequence:
  • NM_001079878.2:c.101+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001298.3:c.101+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Cone-rod dystrophy
Synonyms:
Cone/cone-rod dystrophy; Cone-rod degeneration
Identifiers:
MONDO: MONDO:0015993; MedGen: C4085590; OMIM: PS120970; Human Phenotype Ontology: HP:0000548

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001161001Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161001.1

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

Last Updated: Jul 7, 2024