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NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) AND not provided

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:
RCV000084544.1

Allele description [Variation Report for NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)]

NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)

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.2135C>T (p.Ser712Phe)
HGVS:
  • NC_000017.11:g.46014286C>T
  • NG_007398.1:g.124866C>T
  • NG_007398.2:g.124824C>T
  • NM_001123066.4:c.1964C>T
  • NM_001123067.4:c.872C>T
  • NM_001203251.2:c.779C>T
  • NM_001203252.2:c.866C>T
  • NM_001377265.1:c.2135C>TMANE SELECT
  • NM_001377266.1:c.1844C>T
  • NM_001377267.1:c.771+8C>T
  • NM_001377268.1:c.692C>T
  • NM_005910.6:c.959C>T
  • NM_016834.5:c.785C>T
  • NM_016835.5:c.1910C>T
  • NM_016841.5:c.692C>T
  • NP_001116538.2:p.Ser655Phe
  • NP_001116539.1:p.Ser291Phe
  • NP_001190180.1:p.Ser260Phe
  • NP_001190181.1:p.Ser289Phe
  • NP_001364194.1:p.Ser712Phe
  • NP_001364195.1:p.Ser615Phe
  • NP_001364197.1:p.Ser231Phe
  • NP_005901.2:p.Ser320Phe
  • NP_058518.1:p.Ser262Phe
  • NP_058519.3:p.Ser637Phe
  • NP_058525.1:p.Ser231Phe
  • LRG_660t1:c.1910C>T
  • LRG_660t2:c.2135C>T
  • LRG_660:g.124824C>T
  • LRG_660p1:p.Ser637Phe
  • LRG_660p2:p.Ser712Phe
  • NC_000017.10:g.44091652C>T
  • NR_165166.1:n.790C>T
  • P10636:p.Ser637Phe
Protein change:
S231F; SER320PHE
Links:
UniProtKB: P10636#VAR_019665; OMIM: 157140.0018; dbSNP: rs63750635
NCBI 1000 Genomes Browser:
rs63750635
Molecular consequence:
  • NM_001377267.1:c.771+8C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001123066.4:c.1964C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123067.4:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203251.2:c.779C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203252.2:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377265.1:c.2135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377266.1:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377268.1:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005910.6:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016834.5:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016835.5:c.1910C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016841.5:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165166.1:n.790C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000116680VIB Department of Molecular Genetics, University of Antwerpno assertion providednot providednot providednot provided

Description

Summary from all submissions

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

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116680.1

#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: Apr 23, 2022