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NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 2018
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:
RCV000672797.1

Allele description [Variation Report for NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)]

NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)

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.1238G>T (p.Gly413Val)
HGVS:
  • NC_000006.12:g.42969797C>A
  • NG_008370.1:g.14447G>T
  • NM_000287.4:c.1238G>TMANE SELECT
  • NM_001316313.2:c.974G>T
  • NP_000278.3:p.Gly413Val
  • NP_001303242.1:p.Gly325Val
  • NC_000006.11:g.42937535C>A
  • NM_000287.3:c.1238G>T
  • NR_133009.2:n.1269G>T
Protein change:
G325V; GLY413VAL
Links:
OMIM: 601498.0016; dbSNP: rs1554127531
NCBI 1000 Genomes Browser:
rs1554127531
Molecular consequence:
  • NM_000287.4:c.1238G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316313.2:c.974G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133009.2:n.1269G>T - 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
SCV000797940Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Feb 15, 2018) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ.

Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14.

PubMed [citation]
PMID:
26593283

Details of each submission

From Counsyl, SCV000797940.1

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

Last Updated: Jul 23, 2024