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NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) AND Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 21, 2016
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:
RCV000258329.2

Allele description [Variation Report for NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)]

NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)

Genes:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)
HGVS:
  • NC_000002.12:g.108896970A>T
  • NG_008257.1:g.97403T>A
  • NM_022336.4:c.1284T>AMANE SELECT
  • NP_071731.1:p.Cys428Ter
  • NC_000002.11:g.109513426A>T
  • NM_022336.3:c.1284T>A
Protein change:
C428*
Links:
dbSNP: rs886041005
NCBI 1000 Genomes Browser:
rs886041005
Molecular consequence:
  • NM_022336.4:c.1284T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)
Synonyms:
Ectodermal Dysplasia 3, Anhidrotic
Identifiers:
MONDO: MONDO:0007509; MedGen: C3888065; Orphanet: 1810; Orphanet: 238468; OMIM: 129490

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000328440Hehr Laboratory, Center for Human Genetics Regensburg
no assertion criteria provided
Likely pathogenic
(Jul 21, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Hehr Laboratory, Center for Human Genetics Regensburg, SCV000328440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022