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NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001291423.1

Allele description [Variation Report for NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)]

NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)

Gene:
CDC42:cell division cycle 42 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)
HGVS:
  • NC_000001.11:g.22086463G>A
  • NG_047042.2:g.38755G>A
  • NM_001039802.2:c.203G>A
  • NM_001791.4:c.203G>AMANE SELECT
  • NM_044472.3:c.203G>A
  • NP_001034891.1:p.Arg68Gln
  • NP_001782.1:p.Arg68Gln
  • NP_426359.1:p.Arg68Gln
  • LRG_1326t1:c.203G>A
  • LRG_1326t2:c.203G>A
  • LRG_1326p1:p.Arg68Gln
  • LRG_1326p2:p.Arg68Gln
  • NC_000001.10:g.22412956G>A
  • NG_047042.1:g.38837G>A
  • NM_001791.3:c.203G>A
Protein change:
R68Q
Links:
dbSNP: rs1553196096
NCBI 1000 Genomes Browser:
rs1553196096
Molecular consequence:
  • NM_001039802.2:c.203G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001791.4:c.203G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_044472.3:c.203G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Abnormality of blood and blood-forming tissues
Identifiers:
MedGen: C0850715; Human Phenotype Ontology: HP:0001871
Name:
Abnormality of the immune system
Identifiers:
MedGen: C4021753; Human Phenotype Ontology: HP:0002715
Name:
Postnatal growth retardation
Identifiers:
MedGen: C1859778; Human Phenotype Ontology: HP:0008897
Name:
Neurodevelopmental abnormality
Identifiers:
MedGen: C4022737; Human Phenotype Ontology: HP:0012759

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479924University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicde novoresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, et al.

Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25.

PubMed [citation]
PMID:
29394990
PMCID:
PMC5985417

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024