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NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 21, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000415075.2

Allele description [Variation Report for NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)]

NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
HGVS:
  • NC_000017.11:g.31225236G>A
  • NG_009018.1:g.135260G>A
  • NM_000267.3:c.1987G>A
  • NM_001042492.3:c.1987G>AMANE SELECT
  • NP_000258.1:p.Gly663Arg
  • NP_001035957.1:p.Gly663Arg
  • NP_001035957.1:p.Gly663Arg
  • LRG_214t1:c.1987G>A
  • LRG_214t2:c.1987G>A
  • LRG_214:g.135260G>A
  • LRG_214p1:p.Gly663Arg
  • LRG_214p2:p.Gly663Arg
  • NC_000017.10:g.29552254G>A
  • NM_001042492.2:c.1987G>A
  • p.G663R
Protein change:
G663R
Links:
dbSNP: rs140653372
NCBI 1000 Genomes Browser:
rs140653372
Molecular consequence:
  • NM_000267.3:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperactivity
Identifiers:
MedGen: C0424295; Human Phenotype Ontology: HP:0000752
Name:
Febrile seizure (within the age range of 3 months to 6 years)
Synonyms:
Febrile seizures; febrile convulsion
Identifiers:
MedGen: C0009952; Human Phenotype Ontology: HP:0002373
Name:
Visual loss
Synonyms:
Abnormal vision
Identifiers:
MedGen: C3665386; Human Phenotype Ontology: HP:0000572
Name:
Cafe-au-lait spot
Synonyms:
Café au Lait; Café-au-lait spot
Identifiers:
MedGen: C0221263; Human Phenotype Ontology: HP:0000957
Name:
Strabismus
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Abnormality of vision
Identifiers:
MedGen: C4025846; Human Phenotype Ontology: HP:0000504
Name:
Abnormal electroretinogram
Identifiers:
MedGen: C0476397; Human Phenotype Ontology: HP:0000512
Name:
Abnormal macular morphology
Identifiers:
MedGen: C4520679; Human Phenotype Ontology: HP:0001103
Name:
Abnormality of macular pigmentation
Identifiers:
MedGen: C4024756; Human Phenotype Ontology: HP:0008002
Name:
EEG with generalized slow activity
Identifiers:
MedGen: C4021217; Human Phenotype Ontology: HP:0010845

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492630Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Uncertain significance
(Mar 21, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492630.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024