NM_003978.5(PSTPIP1):c.741+32_741+33dup AND Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000084062.1

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.741+32_741+33dup]

NM_003978.5(PSTPIP1):c.741+32_741+33dup

Gene:
PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_003978.5(PSTPIP1):c.741+32_741+33dup
HGVS:
  • NC_000015.10:g.77031310_77031311dup
  • NG_007526.1:g.41187_41188dup
  • NM_001321135.2:c.741+32_741+33dup
  • NM_001321136.2:c.714+32_714+33dup
  • NM_001321137.1:c.936+32_936+33dup
  • NM_003978.5:c.741+32_741+33dupMANE SELECT
  • LRG_172:g.41187_41188dup
  • NC_000015.9:g.77323651_77323652dup
  • NM_003978.2:c.741+33_741+34insGT
Links:
dbSNP: rs104895417
NCBI 1000 Genomes Browser:
rs104895417
Molecular consequence:
  • NM_001321135.2:c.741+32_741+33dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321136.2:c.714+32_714+33dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321137.1:c.936+32_936+33dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003978.5:c.741+32_741+33dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Synonyms:
Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; Familial recurrent arthritis
Identifiers:
MONDO: MONDO:0011462; MedGen: C1858361; Orphanet: 69126; OMIM: 604416

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116185Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116185.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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