NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Nov 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411360.1

Allele description [Variation Report for NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)]

NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)

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.334C>T (p.Gln112Ter)
HGVS:
  • NC_000006.12:g.136826464C>T
  • NG_008462.1:g.8885C>T
  • NM_000288.4:c.334C>TMANE SELECT
  • NP_000279.1:p.Gln112Ter
  • NC_000006.11:g.137147602C>T
  • NM_000288.3:c.334C>T
Protein change:
Q112*
Links:
dbSNP: rs62653604
NCBI 1000 Genomes Browser:
rs62653604
Molecular consequence:
  • NM_000288.4:c.334C>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
SCV000487296Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 10, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.

Hum Mutat. 2002 Oct;20(4):284-97.

PubMed [citation]
PMID:
12325024

Details of each submission

From Counsyl, SCV000487296.1

#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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