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NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 9, 2018)
Last evaluated:
Feb 22, 2018
Accession:
VCV000487504.1
Variation ID:
487504
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu)

Allele ID
480555
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137163764 (GRCh38) GRCh38 UCSC
9: 140058216 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140058216T>C
NC_000009.12:g.137163764T>C
NM_000832.7:c.2449T>C NP_000823.4:p.Phe817Leu missense
... more HGVS
Protein change
F817L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 138249.0007
dbSNP: rs1554770624
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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 Feb 22, 2018 RCV000576887.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRIN1 - - GRCh38
GRCh37
243 300

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 22, 2018)
no assertion criteria provided
Method: literature only
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000678279.2
Submitted: (Jan 09, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Lemke JR Neurology 2016 PMID: 27164704

Record last updated Aug 25, 2019