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NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) AND Peroxisome biogenesis disorder 6B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 1998
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:
RCV000007174.4

Allele description [Variation Report for NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)]

NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)

Gene:
PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
HGVS:
  • NC_000001.11:g.2408679G>A
  • NG_008342.1:g.8893C>T
  • NM_001374425.1:c.373C>T
  • NM_001374426.1:c.-60C>T
  • NM_001374427.1:c.-60C>T
  • NM_002617.4:c.373C>TMANE SELECT
  • NM_153818.2:c.373C>T
  • NP_001361354.1:p.Arg125Ter
  • NP_002608.1:p.Arg125Ter
  • NP_722540.1:p.Arg125Ter
  • NP_722540.1:p.Arg125Ter
  • NC_000001.10:g.2340118G>A
  • NM_153818.1:c.373C>T
  • NR_164636.1:n.492C>T
Protein change:
R125*; ARG125TER
Links:
OMIM: 602859.0003; dbSNP: rs61750434
NCBI 1000 Genomes Browser:
rs61750434
Molecular consequence:
  • NM_001374426.1:c.-60C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374427.1:c.-60C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_164636.1:n.492C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001374425.1:c.373C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002617.4:c.373C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153818.2:c.373C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Peroxisome biogenesis disorder 6B (PBD6B)
Identifiers:
MONDO: MONDO:0013937; MedGen: C3553948; Orphanet: 44; OMIM: 614871

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027370OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1998) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ.

Am J Hum Genet. 1998 Aug;63(2):347-59.

PubMed [citation]
PMID:
9683594
PMCID:
PMC1377304

Details of each submission

From OMIM, SCV000027370.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the arg125-to-ter (R125X) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with neonatal adrenoleukodystrophy (see PBD6B, 614871) by Warren et al. (1998), see 602859.0002.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024