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NM_000287.4(PEX6):c.2362+1G>A AND Zellweger spectrum disorders

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001276614.1

Allele description [Variation Report for NM_000287.4(PEX6):c.2362+1G>A]

NM_000287.4(PEX6):c.2362+1G>A

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.4(PEX6):c.2362+1G>A
HGVS:
  • NC_000006.12:g.42966043C>T
  • NG_008370.1:g.18201G>A
  • NM_000287.4:c.2362+1G>AMANE SELECT
  • NM_001316313.2:c.2098+1G>A
  • NC_000006.11:g.42933781C>T
  • NM_000287.3:c.2362+1G>A
Links:
dbSNP: rs1443107232
NCBI 1000 Genomes Browser:
rs1443107232
Molecular consequence:
  • NM_000287.4:c.2362+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001316313.2:c.2098+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Zellweger spectrum disorders (ZS)
Synonyms:
Zellweger syndrome; Zellweger Spectrum Disorder; Zellweger Spectrum
Identifiers:
MONDO: MONDO:0019609; MedGen: C0043459; Orphanet: 912

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001463066Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001463066.1

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

Last Updated: Sep 29, 2024