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NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) AND GRIN1-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509282.2

Allele description [Variation Report for NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu)]

NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu)

Gene:
GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu)
HGVS:
  • NC_000009.12:g.137162700C>G
  • NG_011507.1:g.28544C>G
  • NM_000832.7:c.1974C>G
  • NM_001185090.2:c.2037C>G
  • NM_001185091.2:c.2037C>G
  • NM_007327.4:c.1974C>GMANE SELECT
  • NM_021569.4:c.1974C>G
  • NP_000823.4:p.Asp658Glu
  • NP_001172019.1:p.Asp679Glu
  • NP_001172020.1:p.Asp679Glu
  • NP_015566.1:p.Asp658Glu
  • NP_067544.1:p.Asp658Glu
  • NC_000009.11:g.140057152C>G
  • NM_007327.3:c.1974C>G
Protein change:
D658E
Links:
dbSNP: rs1064795712
NCBI 1000 Genomes Browser:
rs1064795712
Molecular consequence:
  • NM_000832.7:c.1974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.2037C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.2037C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1974C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1974C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GRIN1-related disorder
Synonyms:
GRIN1-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000607003GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024