NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) AND Zellweger syndrome

Clinical significance:Benign (Last evaluated: Jan 6, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001276733.1

Allele description [Variation Report for NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)]

NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)

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.1646C>T (p.Ala549Val)
HGVS:
  • NC_000006.12:g.42968332G>A
  • NG_008370.1:g.15912C>T
  • NM_000287.4:c.1646C>TMANE SELECT
  • NM_001316313.2:c.1382C>T
  • NP_000278.3:p.Ala549Val
  • NP_001303242.1:p.Ala461Val
  • NC_000006.11:g.42936070G>A
  • NM_000287.3:c.1646C>T
  • NR_133009.2:n.1677C>T
Protein change:
A461V
Links:
dbSNP: rs115960224
NCBI 1000 Genomes Browser:
rs115960224
Molecular consequence:
  • NM_000287.4:c.1646C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316313.2:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133009.2:n.1677C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Zellweger syndrome (ZS)
Identifiers:
MONDO: MONDO:0019609; MedGen: C0043459; Orphanet: 912

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001463261Natera, Inc.no assertion criteria providedBenign
(Jan 6, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001463261.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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