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NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND Noonan syndrome 1

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:
RCV000208552.2

Allele description [Variation Report for NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)]

NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)

Gene:
NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)
Other names:
p.G60E:GGA>GAA
HGVS:
  • NC_000001.11:g.114713911C>T
  • NG_007572.1:g.7984G>A
  • NM_002524.5:c.179G>AMANE SELECT
  • NP_002515.1:p.Gly60Glu
  • LRG_92t1:c.179G>A
  • LRG_92:g.7984G>A
  • LRG_92p1:p.Gly60Glu
  • NC_000001.10:g.115256532C>T
  • NM_002524.3:c.179G>A
  • NM_002524.4:c.179G>A
  • P01111:p.Gly60Glu
Protein change:
G60E; GLY60GLU
Links:
UniProtKB: P01111#VAR_063086; OMIM: 164790.0005; dbSNP: rs267606920
NCBI 1000 Genomes Browser:
rs267606920
Molecular consequence:
  • NM_002524.5:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 1 (NS1)
Synonyms:
Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264348GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000264348.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024