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NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) AND not provided

Clinical significance:Benign (Last evaluated: Aug 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001618407.3

Allele description [Variation Report for NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)]

NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)

Gene:
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)
HGVS:
  • NC_000017.11:g.45983912C>T
  • NG_007398.1:g.94492C>T
  • NG_007398.2:g.94450C>T
  • NM_001123066.4:c.1108C>T
  • NM_001123067.4:c.287-3128C>T
  • NM_001203251.2:c.287-3128C>T
  • NM_001203252.2:c.374-3128C>T
  • NM_001377265.1:c.1333C>TMANE SELECT
  • NM_001377266.1:c.1333C>T
  • NM_001377267.1:c.287-3128C>T
  • NM_001377268.1:c.200-3128C>T
  • NM_005910.6:c.374-3128C>T
  • NM_016834.5:c.200-3128C>T
  • NM_016835.5:c.1108C>T
  • NM_016841.5:c.200-3128C>T
  • NP_001116538.2:p.Arg370Trp
  • NP_001116538.2:p.Arg370Trp
  • NP_001364194.1:p.Arg445Trp
  • NP_001364195.1:p.Arg445Trp
  • NP_058519.3:p.Arg370Trp
  • LRG_660t1:c.1108C>T
  • LRG_660t2:c.1333C>T
  • LRG_660:g.94450C>T
  • LRG_660p1:p.Arg370Trp
  • LRG_660p2:p.Arg445Trp
  • NC_000017.10:g.44061278C>T
  • NM_001123066.3:c.1108C>T
  • P10636:p.Arg370Trp
Protein change:
R370W
Links:
UniProtKB: P10636#VAR_056121; dbSNP: rs17651549
NCBI 1000 Genomes Browser:
rs17651549
Molecular consequence:
  • NM_001123067.4:c.287-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001203251.2:c.287-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001203252.2:c.374-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377267.1:c.287-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377268.1:c.200-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005910.6:c.374-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016834.5:c.200-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016841.5:c.200-3128C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001123066.4:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377265.1:c.1333C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377266.1:c.1333C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016835.5:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001846817GeneDxcriteria provided, single submitter
Benign
(Aug 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001846817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 23222517)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022