NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Dec 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671389.1

Allele description [Variation Report for NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)]

NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
HGVS:
  • NC_000017.11:g.35577093G>A
  • NG_008447.1:g.6545C>T
  • NM_000286.3:c.625C>TMANE SELECT
  • NP_000277.1:p.Gln209Ter
  • NC_000017.10:g.33904112G>A
  • NM_000286.2:c.625C>T
Protein change:
Q209*
Links:
dbSNP: rs61752106
NCBI 1000 Genomes Browser:
rs61752106
Molecular consequence:
  • NM_000286.3:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Peroxisome biogenesis disorder type 3B
Synonyms:
Refsum disease, infantile form; Infantile Refsum disease; Infantile form of phytanic acid storage disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009959; MedGen: C3550693; Orphanet: 44; OMIM: 266510
Name:
Peroxisome biogenesis disorder 3A (PBD3A)
Synonyms:
PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)
Identifiers:
MONDO: MONDO:0013927; MedGen: C3553929; Orphanet: 912; OMIM: 614859

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796361Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 12, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

Gootjes J, Schmohl F, Waterham HR, Wanders RJ.

Eur J Hum Genet. 2004 Feb;12(2):115-20.

PubMed [citation]
PMID:
14571262

Details of each submission

From Counsyl, SCV000796361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2021

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