NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) AND GRIN1-Related Disorder

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000844969.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile)]

NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile)

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.1923G>A (p.Met641Ile)
HGVS:
  • NC_000009.12:g.137162649G>A
  • NG_011507.1:g.28493G>A
  • NM_000832.7:c.1923G>A
  • NM_001185090.2:c.1986G>A
  • NM_001185091.2:c.1986G>A
  • NM_007327.4:c.1923G>AMANE SELECT
  • NM_021569.4:c.1923G>A
  • NP_000823.4:p.Met641Ile
  • NP_001172019.1:p.Met662Ile
  • NP_001172020.1:p.Met662Ile
  • NP_015566.1:p.Met641Ile
  • NP_067544.1:p.Met641Ile
  • NC_000009.11:g.140057101G>A
  • NM_007327.3:c.1923G>A
Protein change:
M641I
Links:
dbSNP: rs1060500046
NCBI 1000 Genomes Browser:
rs1060500046
Molecular consequence:
  • NM_000832.7:c.1923G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1923G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1923G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GRIN1-Related Disorder
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000986794GenomeConnect, ClinGenno assertion providednot 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, SCV000986794.1

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

Description

Variant interpretted as pathogenic and reported on 05/15/2018 by GTR ID 26957. 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 providedvalidationnot providednot providednot providednot provided

Last Updated: May 10, 2021

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