NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Oct 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000670011.1

Allele description [Variation Report for NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)]

NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
HGVS:
  • NC_000017.11:g.35577496A>T
  • NG_008447.1:g.6142T>A
  • NM_000286.3:c.222T>AMANE SELECT
  • NP_000277.1:p.Tyr74Ter
  • NC_000017.10:g.33904515A>T
  • NM_000286.2:c.222T>A
Protein change:
Y74*
Links:
dbSNP: rs765404768
NCBI 1000 Genomes Browser:
rs765404768
Molecular consequence:
  • NM_000286.3:c.222T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Peroxisome biogenesis disorder type 3B
Synonyms:
Refsum disease, infantile form; Infantile Refsum disease; Infantile form of phytanic acid storage disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009959; MedGen: C3550693; Orphanet: 44; OMIM: 266510
Name:
Peroxisome biogenesis disorder 3A (PBD3A)
Synonyms:
PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)
Identifiers:
MONDO: MONDO:0013927; MedGen: C3553929; Orphanet: 912; OMIM: 614859

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794819Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 17, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794819.1

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

Last Updated: Nov 27, 2021

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