U.S. flag

An official website of the United States government

NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) AND Leber congenital amaurosis 2

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001250697.1

Allele description [Variation Report for NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)]

NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)

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.1301C>A (p.Ala434Glu)
Other names:
NM_000329.3(RPE65):c.1301C>A; p.Ala434Glu
HGVS:
  • NC_000001.11:g.68431319G>T
  • NG_008472.2:g.23641C>A
  • NM_000329.3:c.1301C>AMANE SELECT
  • NP_000320.1:p.Ala434Glu
  • NC_000001.10:g.68897002G>T
  • NC_000001.10:g.68897002G>T
  • NG_008472.1:g.23641C>A
  • NM_000329.2:c.1301C>A
Protein change:
A434E
Links:
dbSNP: rs34627040
NCBI 1000 Genomes Browser:
rs34627040
Molecular consequence:
  • NM_000329.3:c.1301C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 2 (LCA2)
Synonyms:
AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; RPE65-Related Leber Congenital Amaurosis
Identifiers:
MONDO: MONDO:0008765; MedGen: C1859844; Orphanet: 65; OMIM: 204100

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425572Laboratory of Genetics in Ophthalmology, Institut Imagine
no assertion criteria provided
Likely pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001425572.1

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

Last Updated: Sep 29, 2024