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NM_201253.3(CRB1):c.652+3_652+6del AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003888077.1

Allele description [Variation Report for NM_201253.3(CRB1):c.652+3_652+6del]

NM_201253.3(CRB1):c.652+3_652+6del

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.652+3_652+6del
HGVS:
  • NC_000001.11:g.197329006_197329009del
  • NG_008483.2:g.132545_132548del
  • NM_001193640.2:c.652+3_652+6del
  • NM_001257965.2:c.445+3_445+6del
  • NM_001257966.2:c.652+3_652+6del
  • NM_201253.3:c.652+3_652+6delMANE SELECT
  • NC_000001.10:g.197298134_197298137del
  • NC_000001.10:g.197298136_197298139del
  • NM_001257965.2:c.445+3_445+6delAAGT
Links:
dbSNP: rs1658700284
NCBI 1000 Genomes Browser:
rs1658700284
Molecular consequence:
  • NM_001193640.2:c.652+3_652+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257965.2:c.445+3_445+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257966.2:c.652+3_652+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_201253.3:c.652+3_652+6del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004704930Dept Of Ophthalmology, Nagoya University
criteria provided, single submitter

(Submitter's publication)
Pathogenic
(Oct 1, 2023)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004704930.1

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

Last Updated: Jun 23, 2024