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PCARE, TRP253TER

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 14, 2010
Accession:
VCV000000101.2
Variation ID:
101
Description:
single nucleotide variant
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PCARE, TRP253TER

Allele ID
15140
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
2p24.1-p23.1
Genomic location
-
HGVS
-
Protein change
-
Other names
W253*
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 613425.0001
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 14, 2010 RCV000000121.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCARE - - GRCh38
GRCh37
577 602

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 14, 2010)
no assertion criteria provided
Method: literature only
RETINITIS PIGMENTOSA 54
Allele origin: germline
OMIM
Accession: SCV000020264.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Nishimura DY American journal of human genetics 2010 PMID: 20398886

Record last updated Oct 08, 2021