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NM_000272.3(NPHP1):c.625-3dup AND Leber congenital amaurosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2014
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:
RCV000144477.1

Allele description [Variation Report for NM_000272.3(NPHP1):c.625-3dup]

NM_000272.3(NPHP1):c.625-3dup

Gene:
NPHP1:nephrocystin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_000272.3(NPHP1):c.625-3dup
HGVS:
  • NC_000002.12:g.110165163dup
  • NG_008287.1:g.44905dup
  • NM_000272.5:c.625-3dup
  • NM_001128178.3:c.625-3dupMANE SELECT
  • NM_001128179.3:c.439-3dup
  • NM_001374256.1:c.625-3dup
  • NM_001374257.1:c.625-3dup
  • NM_207181.4:c.625-3dup
  • NC_000002.11:g.110922734_110922735insA
  • NC_000002.11:g.110922740dup
  • NM_000272.3:c.625-3dupT
Links:
dbSNP: rs200118387
NCBI 1000 Genomes Browser:
rs200118387
Molecular consequence:
  • NM_000272.5:c.625-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128178.3:c.625-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128179.3:c.439-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374256.1:c.625-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374257.1:c.625-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207181.4:c.625-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189612Molecular Diagnostics Laboratory, Seoul National University Hospital
no assertion criteria provided
Uncertain significance
(Sep 18, 2014) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Diagnostics Laboratory, Seoul National University Hospital, SCV000189612.1

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

Last Updated: Nov 10, 2024