NM_000288.4(PEX7):c.806dup (p.Trp270fs) AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Oct 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664574.1

Allele description [Variation Report for NM_000288.4(PEX7):c.806dup (p.Trp270fs)]

NM_000288.4(PEX7):c.806dup (p.Trp270fs)

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.806dup (p.Trp270fs)
HGVS:
  • NC_000006.12:g.136898144dup
  • NG_008462.1:g.80565dup
  • NM_000288.4:c.806dupMANE SELECT
  • NP_000279.1:p.Trp270fs
  • NC_000006.11:g.137219282dup
  • NM_000288.3:c.806dupT
Protein change:
W270fs
Links:
dbSNP: rs1464766327
NCBI 1000 Genomes Browser:
rs1464766327
Molecular consequence:
  • NM_000288.4:c.806dup - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788561Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 3, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000788561.1

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

Last Updated: Oct 7, 2021

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