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NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2018
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:
RCV000674302.1

Allele description [Variation Report for NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])]

NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])
HGVS:
  • NC_000007.14:g.92510998TTTTTC[1]
  • NG_008341.2:g.22525AAAAGA[1]
  • NM_000466.3:c.1524AAAAGA[1]MANE SELECT
  • NM_001282677.2:c.1524AAAAGA[1]
  • NM_001282678.2:c.900AAAAGA[1]
  • NP_000457.1:p.508EK[1]
  • NP_001269606.1:p.508EK[1]
  • NP_001269607.1:p.300EK[1]
  • NC_000007.13:g.92140312TTTTTC[1]
  • NM_000466.2:c.1530_1535del6
Links:
dbSNP: rs1554373613
NCBI 1000 Genomes Browser:
rs1554373613
Molecular consequence:
  • NM_000466.3:c.1524AAAAGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282677.2:c.1524AAAAGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001282678.2:c.900AAAAGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799616Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 1, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000799616.1

#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: Apr 23, 2022