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NM_014249.3(NR2E3):c.183C>T (p.Ile61=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Apr 4, 2018
Accession:
VCV000557608.1
Variation ID:
557608
Description:
single nucleotide variant
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NM_014249.3(NR2E3):c.183C>T (p.Ile61=)

Allele ID
547507
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 71811547 (GRCh38) GRCh38 UCSC
15: 72103887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.72103887C>T
NC_000015.10:g.71811547C>T
NM_016346.3:c.183C>T NP_057430.1:p.Ile61=
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs771404428
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 4, 2018 RCV000673773.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NR2E3 - - GRCh38
GRCh37
90 103

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 04, 2018)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 37
Enhanced s-cone syndrome
Allele origin: unknown
Counsyl
Accession: SCV000799015.1
Submitted: (Jul 10, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019