NM_014009.3(FOXP3):c.1015C>G (p.Pro339Ala) AND Insulin-dependent diabetes mellitus secretory diarrhea syndrome

Clinical significance:Likely pathogenic (Last evaluated: Aug 19, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000387030.1

Allele description

NM_014009.3(FOXP3):c.1015C>G (p.Pro339Ala)

Gene:
FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_014009.3(FOXP3):c.1015C>G (p.Pro339Ala)
HGVS:
  • NC_000023.11:g.49253155G>C
  • NG_007392.1:g.16673C>G
  • NM_014009.3:c.1015C>G
  • NP_054728.2:p.Pro339Ala
  • LRG_62t1:c.1015C>G
  • LRG_62:g.16673C>G
  • LRG_62p1:p.Pro339Ala
  • NC_000023.10:g.49109616G>C
Protein change:
P339A
Links:
dbSNP: rs886044787
NCBI 1000 Genomes Browser:
rs886044787
Molecular consequence:
  • NM_014009.3:c.1015C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome (IPEX)
Synonyms:
DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA; IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Identifiers:
MedGen: C0342288; Orphanet: 37042; OMIM: 304790

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000333248EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Aug 19, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000333248.2

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

Last Updated: Mar 23, 2018

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