NM_002524.4(NRAS):c.101C>T (p.Pro34Leu) AND Noonan syndrome 1

Clinical significance:Pathogenic (Last evaluated: Feb 25, 2016)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208568.1

Allele description [Variation Report for NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)]

NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)

Gene:
NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)
HGVS:
  • NC_000001.11:g.114716060G>A
  • NG_007572.1:g.5835C>T
  • NM_002524.4:c.101C>T
  • NP_002515.1:p.Pro34Leu
  • LRG_92t1:c.101C>T
  • LRG_92:g.5835C>T
  • LRG_92p1:p.Pro34Leu
  • NC_000001.10:g.115258681G>A
  • NM_002524.3:c.101C>T
  • P01111:p.Pro34Leu
Protein change:
P34L; PRO34LEU
Links:
UniProtKB: P01111#VAR_071130; OMIM: 164790.0006; dbSNP: rs397514553
NCBI 1000 Genomes Browser:
rs397514553
Molecular consequence:
  • NM_002524.4:c.101C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 1 (NS1)
Synonyms:
Turner Syndrome, Male
Identifiers:
MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264346GeneReviewsno assertion criteria providedPathogenic
(Feb 25, 2016)
germlineliterature only

Citation Link

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000264346.1

#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: Mar 30, 2019

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