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NM_000288.4(PEX7):c.45_52dup (p.His18fs) AND Rhizomelic chondrodysplasia punctata type 1

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:
RCV000008226.3

Allele description [Variation Report for NM_000288.4(PEX7):c.45_52dup (p.His18fs)]

NM_000288.4(PEX7):c.45_52dup (p.His18fs)

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
HGVS:
  • NC_000006.12:g.136822710_136822717dup
  • NG_008462.1:g.5131_5138dup
  • NM_000288.4:c.45_52dupMANE SELECT
  • NP_000279.1:p.His18fs
  • NC_000006.11:g.137143840_137143841insGGACGCCG
  • NC_000006.11:g.137143848_137143855dup
  • NM_000288.3:c.45_52dupGGGACGCC
Protein change:
H18fs
Links:
OMIM: 601757.0005; dbSNP: rs63535662
NCBI 1000 Genomes Browser:
rs63535662
Molecular consequence:
  • NM_000288.4:c.45_52dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055658GeneReviews
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

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB.

2001 Nov 16 [updated 2020 Jan 30]. 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:
20301447

Details of each submission

From GeneReviews, SCV000055658.2

#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