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NC_000023.11:g.128710337_128710338del AND Developmental cataract

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2021
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:
RCV001763536.1

Allele description [Variation Report for NC_000023.11:g.128710337_128710338del]

NC_000023.11:g.128710337_128710338del

Gene:
OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NC_000023.11:g.128710337_128710338del
HGVS:
  • NC_000023.11:g.128710337_128710338del
  • NC_000023.10:g.127844315_127844316del
Links:
dbSNP: rs2124446919
NCBI 1000 Genomes Browser:
rs2124446919
Functional consequence:
absent gene product [Sequence Ontology: SO:0002317]
Observations:
1

Condition(s)

Name:
Developmental cataract
Synonyms:
Congenital cataract; Congenital cataracts
Identifiers:
MedGen: C0009691; Human Phenotype Ontology: HP:0000519

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001989747Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences
no assertion criteria provided
Pathogenic
(Apr 18, 2021) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences, SCV001989747.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023