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NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) AND Cutis laxa, autosomal recessive, type 1A

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:
RCV000032272.3

Allele description [Variation Report for NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)]

NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)

Gene:
EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
HGVS:
  • NC_000011.10:g.65869976T>G
  • NG_012304.2:g.7959A>C
  • NM_016938.5:c.608A>CMANE SELECT
  • NP_058634.4:p.Asp203Ala
  • NC_000011.9:g.65637447T>G
  • NM_016938.4:c.608A>C
  • NR_037718.2:n.733A>C
Protein change:
D203A; ASP203ALA
Links:
OMIM: 604633.0009; dbSNP: rs193302864
NCBI 1000 Genomes Browser:
rs193302864
Molecular consequence:
  • NM_016938.5:c.608A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037718.2:n.733A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cutis laxa, autosomal recessive, type 1A (ARCL1A)
Synonyms:
Autosomal recessive cutis laxa type IA
Identifiers:
MONDO: MONDO:0009052; MedGen: C5848058; Orphanet: 90349; OMIM: 219100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055907GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

EFEMP2-Related Cutis Laxa.

Loeys B, De Paepe A, Urban Z.

2011 May 12 [updated 2023 Jun 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
21563328

Details of each submission

From GeneReviews, SCV000055907.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024