NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) AND Peroxisome biogenesis disorder 1A (Zellweger)

Clinical significance:Likely pathogenic (Last evaluated: Oct 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669833.1

Allele description [Variation Report for NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)]

NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
HGVS:
  • NC_000007.14:g.92506262_92506263del
  • NG_008341.1:g.27270_27271del
  • NG_008341.2:g.27270_27271del
  • NM_000466.3:c.1886_1887delMANE SELECT
  • NM_001282677.2:c.1886_1887del
  • NM_001282678.2:c.1262_1263del
  • NP_000457.1:p.Asp628_Cys629insTer
  • NP_001269606.1:p.Asp628_Cys629insTer
  • NP_001269607.1:p.Asp420_Cys421insTer
  • NC_000007.13:g.92135576_92135577del
  • NM_000466.2:c.1886_1887delGT
  • NM_000466.3:c.1886_1887delGTMANE SELECT
Links:
dbSNP: rs1398892633
NCBI 1000 Genomes Browser:
rs1398892633
Molecular consequence:
  • NM_000466.3:c.1886_1887del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282677.2:c.1886_1887del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282678.2:c.1262_1263del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:
Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:
MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794624Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 4, 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

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.

Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.

PubMed [citation]
PMID:
21031596

Details of each submission

From Counsyl, SCV000794624.1

#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: Jan 8, 2022

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