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NM_000466.3(PEX1):c.358-2A>C AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 19, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000670124.1

Allele description [Variation Report for NM_000466.3(PEX1):c.358-2A>C]

NM_000466.3(PEX1):c.358-2A>C

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.358-2A>C
HGVS:
  • NC_000007.14:g.92518257T>G
  • NG_008341.2:g.15275A>C
  • NM_000466.3:c.358-2A>CMANE SELECT
  • NM_001282677.2:c.358-2A>C
  • NM_001282678.2:c.-267-2A>C
  • NC_000007.13:g.92147571T>G
  • NM_000466.2:c.358-2A>C
Links:
dbSNP: rs1057517500
NCBI 1000 Genomes Browser:
rs1057517500
Molecular consequence:
  • NM_000466.3:c.358-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282677.2:c.358-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282678.2:c.-267-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000794941Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Oct 19, 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, SCV000794941.1

#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: Sep 29, 2024