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NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) AND RPE65-related disorder

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:
RCV001249229.2

Allele description [Variation Report for NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)]

NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
Other names:
NM_000329.3(RPE65):c.304G>T; p.Glu102Ter
HGVS:
  • NC_000001.11:g.68444825C>A
  • NG_008472.2:g.10135G>T
  • NM_000329.3:c.304G>TMANE SELECT
  • NP_000320.1:p.Glu102Ter
  • NC_000001.10:g.68910508C>A
  • NG_008472.1:g.10135G>T
  • NM_000329.2:c.304G>T
Protein change:
E102*
Links:
dbSNP: rs62642584
NCBI 1000 Genomes Browser:
rs62642584
Molecular consequence:
  • NM_000329.3:c.304G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
RPE65-related disorder
Synonyms:
RPE65-Related Disorders; RPE65-related condition
Identifiers:
MedGen: CN239301

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423163GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Pathogenic and reported on 02-05-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024