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:

Condition(s)

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

Recent activity

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aluminum-activated malate transporter 9 [Oryza sativa Japonica Group]
aluminum-activated malate transporter 9 [Oryza sativa Japonica Group]
gi|1002242796|ref|XP_015625620.1|

Protein
Kitasatospora sp. strain B9 16S ribosomal RNA gene, partial sequence
Kitasatospora sp. strain B9 16S ribosomal RNA gene, partial sequence
gi|2797276880|gb|PQ278715.1|

Nucleotide
Caribbean Region
Caribbean Region
The area that lies between continental North and South America and comprises the Caribbean Sea, the West Indies, and the adjacent mainland regions of southern Mexico, Central ...<br/>Year introduced: 1994

MeSH
London
London
The capital of the United Kingdom. It is located in England.<br/>

MeSH
Baltimore
Baltimore
A city located in Maryland.<br/>Year introduced: 1989

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001989747	Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences	no assertion criteria provided	Pathogenic (Apr 18, 2021)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001989747

Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences

no assertion criteria provided

Pathogenic
(Apr 18, 2021)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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