ClinVar

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:

• Chr17: 45983912 (on Assembly GRCh38)
• Chr17: 44061278 (on Assembly GRCh37)

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

This HGVS expression did not pass validation

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]