NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Oct 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000670069.1

Allele description [Variation Report for NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)]

NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)
HGVS:
  • NC_000006.12:g.136845648G>T
  • NG_008462.1:g.28069G>T
  • NM_000288.4:c.373G>TMANE SELECT
  • NP_000279.1:p.Glu125Ter
  • NC_000006.11:g.137166786G>T
  • NM_000288.3:c.373G>T
Protein change:
E125*
Links:
dbSNP: rs769137963
NCBI 1000 Genomes Browser:
rs769137963
Molecular consequence:
  • NM_000288.4:c.373G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Synonyms:
Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; PEROXISOME BIOGENESIS DISORDER 9
Identifiers:
MONDO: MONDO:0008972; MedGen: C1859133; Orphanet: 177; OMIM: 215100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794883Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 18, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB.

Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26. No abstract available.

PubMed [citation]
PMID:
26408048

Details of each submission

From Counsyl, SCV000794883.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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