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NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) AND not provided

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:
RCV000085219.1

Allele description [Variation Report for NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)]

NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)

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.700C>T (p.Arg234Ter)
Other names:
NM_000329.3(RPE65):c.700C>T; p.Arg234Ter
HGVS:
  • NC_000001.11:g.68439586G>A
  • NG_008472.2:g.15374C>T
  • NM_000329.3:c.700C>TMANE SELECT
  • NP_000320.1:p.Arg234Ter
  • NC_000001.10:g.68905269G>A
  • NG_008472.1:g.15374C>T
  • NM_000329.2:c.700C>T
Protein change:
R234*; ARG234TER
Links:
OMIM: 180069.0002; dbSNP: rs61752895
NCBI 1000 Genomes Browser:
rs61752895
Molecular consequence:
  • NM_000329.3:c.700C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000117356Retina International
no classification provided
not providednot providednot provided

Description

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000117356.1

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

Last Updated: Mar 5, 2024