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NM_004826.3(ECEL1):c.[1252C>T;590G>A] AND Distal arthrogryposis type 5D

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 8, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000224367.2

Alleles description [Variation Report for NM_004826.3(ECEL1):c.[1252C>T;590G>A]]

NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)

Gene:
ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)
HGVS:
  • NC_000002.12:g.232484156G>A
  • NG_034065.1:g.8704C>T
  • NM_001290787.2:c.1252C>T
  • NM_004826.4:c.1252C>TMANE SELECT
  • NP_001277716.1:p.Arg418Cys
  • NP_004817.2:p.Arg418Cys
  • NC_000002.11:g.233348866G>A
  • NM_004826.2:c.1252C>T
Protein change:
R418C; ARG418CYS
Links:
OMIM: 605896.0005; dbSNP: rs587776919
NCBI 1000 Genomes Browser:
rs587776919
Molecular consequence:
  • NM_001290787.2:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004826.4:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]

NM_004826.4(ECEL1):c.590G>A (p.Gly197Asp)

Gene:
ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_004826.4(ECEL1):c.590G>A (p.Gly197Asp)
HGVS:
  • NC_000002.12:g.232486064C>T
  • NG_034065.1:g.6796G>A
  • NM_001290787.2:c.590G>A
  • NM_004826.4:c.590G>AMANE SELECT
  • NP_001277716.1:p.Gly197Asp
  • NP_004817.2:p.Gly197Asp
  • NC_000002.11:g.233350774C>T
  • NM_004826.2:c.590G>A
Protein change:
G197D; GLY197ASP
Links:
OMIM: 605896.0006; dbSNP: rs587776921
NCBI 1000 Genomes Browser:
rs587776921
Molecular consequence:
  • NM_001290787.2:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004826.4:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Distal arthrogryposis type 5D (DA5D)
Identifiers:
MONDO: MONDO:0014028; MedGen: C3554415; Orphanet: 329457; OMIM: 615065

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281670University of Washington Center for Mendelian Genomics, University of Washington
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Jan 8, 2013) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutations in ECEL1 cause distal arthrogryposis type 5D.

McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics..

Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20.

PubMed [citation]
PMID:
23261301
PMCID:
PMC3542461

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000281670.1

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

Last Updated: Jan 26, 2024