ClinVar

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:

• Chr17: 46014286 (on Assembly GRCh38)
• Chr17: 44091652 (on Assembly GRCh37)

Preferred name:

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

HGVS:

• NC_000017.11:g.46014286C>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
• NG_007398.1:g.124866C>T
• NR_165166.1:n.790C>T
• P10636:p.Ser637Phe

This HGVS expression did not pass validation

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]