NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 3, 2017)

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:
RCV000675191.1

Allele description [Variation Report for NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)]

NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)
Other names:
E291del
HGVS:
  • NC_000023.11:g.153726137GAG[1]
  • NG_009022.2:g.6270GAG[1]
  • NG_023231.1:g.3606TCC[1]
  • NM_000033.4:c.871GAG[1]MANE SELECT
  • NP_000024.2:p.Glu292del
  • LRG_1017t1:c.871GAG[1]
  • LRG_1017:g.6270GAG[1]
  • LRG_1017p1:p.Glu292del
  • NC_000023.10:g.152991592GAG[1]
  • NM_000033.4:c.874_876delGAGMANE SELECT
  • NP_000024.2:p.Glu291del
Protein change:
E292del; GLU291DEL
Links:
OMIM: 300371.0023; dbSNP: rs387906496
NCBI 1000 Genomes Browser:
rs387906496
Molecular consequence:
  • NM_000033.4:c.871GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800832Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedLikely pathogenic
(Oct 3, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800832.1

#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 28, 2021

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