NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) AND Peroxisome biogenesis disorder 7B

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2003
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:: RCV000002240.4

Allele description [Variation Report for NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)]

NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)

Gene:

PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)

HGVS:

NC_000022.11:g.18078510T>C
NG_008339.1:g.5591T>C
NM_001127649.3:c.134T>CMANE SELECT
NM_001199319.2:c.134T>C
NM_017929.6:c.134T>C
NP_001121121.1:p.Leu45Pro
NP_001186248.1:p.Leu45Pro
NP_060399.1:p.Leu45Pro
NC_000022.10:g.18561276T>C
NM_017929.5:c.134T>C
Q7Z412:p.Leu45Pro

Protein change:

L45P; LEU45PRO

Links:

UniProtKB: Q7Z412#VAR_018647; OMIM: 608666.0006; dbSNP: rs61752132

NCBI 1000 Genomes Browser:

rs61752132

Molecular consequence:

NM_001127649.3:c.134T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001199319.2:c.134T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_017929.6:c.134T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Peroxisome biogenesis disorder 7B (PBD7B)
Identifiers:: MONDO: MONDO:0013939; MedGen: C3553951; Orphanet: 44; OMIM: 614873

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022398	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022398

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y.

Am J Hum Genet. 2003 Aug;73(2):233-46. Epub 2003 Jul 8.

PubMed [citation]

PMID:: 12851857
PMCID:: PMC1180364

Details of each submission

From OMIM, SCV000022398.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of leu45-to-pro (L45P) mutation in the PEX26 gene that was found in compound heterozygous state in a patient (cell line GM08771) with infantile Refsum disease (see PBD7B, 614873) by Matsumoto et al. (2003), see 608666.0005.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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