NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) AND Peroxisome biogenesis disorder 1A (Zellweger)

Clinical significance:Likely pathogenic (Last evaluated: Jan 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409499.1

Allele description [Variation Report for NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)]

NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)

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.2617C>T (p.Gln873Ter)
HGVS:
  • NC_000007.14:g.92499805G>A
  • NG_008341.1:g.33727C>T
  • NG_008341.2:g.33727C>T
  • NM_000466.3:c.2617C>TMANE SELECT
  • NM_001282677.2:c.2446C>T
  • NM_001282678.2:c.1993C>T
  • NP_000457.1:p.Gln873Ter
  • NP_001269606.1:p.Gln816Ter
  • NP_001269607.1:p.Gln665Ter
  • NC_000007.13:g.92129119G>A
  • NM_000466.2:c.2617C>T
Protein change:
Q665*
Links:
dbSNP: rs1057517470
NCBI 1000 Genomes Browser:
rs1057517470
Molecular consequence:
  • NM_000466.3:c.2617C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282677.2:c.2446C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282678.2:c.1993C>T - 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; Orphanet: 912; OMIM: 214100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487492Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 22, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000487492.1

#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: Nov 27, 2021

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