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NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)

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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:
VCV000000102.2
Variation ID:
102
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)

Allele ID
15141
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073661 (GRCh38) GRCh38 UCSC
2: 29296527 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29296527T>A
NC_000002.12:g.29073661T>A
NG_021427.1:g.5601A>T
... more HGVS
Protein change
I201F
Other names
-
Canonical SPDI
NC_000002.12:29073660:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: A6NGG8#VAR_063395
ClinGen: CA251386
OMIM: 613425.0002
dbSNP: rs267606690
Varsome
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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 RCV000000122.4
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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: SCV000020265.3
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

Text-mined citations for rs267606690...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021