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NM_001377265.1(MAPT):c.*241dup AND MAPT-Related Spectrum Disorders

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000301434.3

Allele description [Variation Report for NM_001377265.1(MAPT):c.*241dup]

NM_001377265.1(MAPT):c.*241dup

Gene:
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001377265.1(MAPT):c.*241dup
HGVS:
  • NC_000017.11:g.46024412dup
  • NG_007398.1:g.135000dup
  • NG_007398.2:g.134950dup
  • NM_001123066.4:c.*241dup
  • NM_001123067.4:c.*241dup
  • NM_001203251.2:c.*241dup
  • NM_001203252.2:c.*241dup
  • NM_001377265.1:c.*241dupMANE SELECT
  • NM_001377266.1:c.*241dup
  • NM_001377267.1:c.772-705dup
  • NM_001377268.1:c.*241dup
  • NM_005910.6:c.*241dup
  • NM_016834.5:c.*241dup
  • NM_016835.5:c.*241dup
  • NM_016841.5:c.*241dup
  • LRG_660t1:c.*241dup
  • LRG_660t2:c.*241dup
  • LRG_660:g.134950dup
  • NC_000017.10:g.44101778dup
  • NM_005910.5:c.*241dupT
  • NR_165166.1:n.1398dup
Links:
dbSNP: rs55661512
NCBI 1000 Genomes Browser:
rs55661512
Molecular consequence:
  • NM_001123066.4:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001123067.4:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203251.2:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203252.2:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377265.1:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377266.1:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377268.1:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005910.6:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016834.5:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016835.5:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016841.5:c.*241dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377267.1:c.772-705dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_165166.1:n.1398dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MAPT-Related Spectrum Disorders
Identifiers:
MedGen: CN239327

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000403496Illumina Laboratory Services,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000403496.2

#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: Apr 23, 2022