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NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 21, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000675148.3

Allele description [Variation Report for NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)]

NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)

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.1802G>A (p.Arg601Gln)
HGVS:
  • NC_000006.12:g.42967450C>T
  • NG_008370.1:g.16794G>A
  • NM_000287.4:c.1802G>AMANE SELECT
  • NM_001316313.2:c.1538G>A
  • NP_000278.3:p.Arg601Gln
  • NP_001303242.1:p.Arg513Gln
  • NC_000006.11:g.42935188C>T
  • NM_000287.3:c.1802G>A
  • NM_001316313.1:c.1538G>A
  • NR_133009.2:n.1833G>A
  • Q13608:p.Arg601Gln
Protein change:
R513Q; ARG601GLN
Links:
UniProtKB: Q13608#VAR_058383; OMIM: 601498.0012; dbSNP: rs34324426
NCBI 1000 Genomes Browser:
rs34324426
Molecular consequence:
  • NM_000287.4:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316313.2:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133009.2:n.1833G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A)
Synonyms:
Zellweger syndrome spectrum (PEX6-related)
Identifiers:
MONDO: MONDO:0013930; MedGen: C3553936; Orphanet: 912; OMIM: 614862
Name:
Peroxisome biogenesis disorder 4B (PBD4B)
Identifiers:
MONDO: MONDO:0013931; MedGen: C3553937; Orphanet: 44; OMIM: 614863

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800748Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Nov 21, 2017) 		unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF.

Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15.

PubMed [citation]
PMID:
27302843
PMCID:
PMC5026821

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.

Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932.

PubMed [citation]
PMID:
19105186
PMCID:
PMC2649967
See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV000800748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024