ClinVar

NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)

Gene:

MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46010388 (on Assembly GRCh38)
• Chr17: 44087754 (on Assembly GRCh37)

Preferred name:

NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)

HGVS:

• NC_000017.11:g.46010388C>T
• NG_007398.2:g.120926C>T
• NM_001123066.4:c.1906C>T
• NM_001123067.4:c.814C>T
• NM_001203251.2:c.736-3855C>T
• NM_001203252.2:c.823-3855C>T
• NM_001377265.1:c.2077C>TMANE SELECT
• NM_001377266.1:c.1801-3855C>T
• NM_001377267.1:c.736-3855C>T
• NM_001377268.1:c.649-3855C>T
• NM_005910.6:c.901C>T
• NM_016834.5:c.727C>T
• NM_016835.5:c.1852C>T
• NM_016841.5:c.649-3855C>T
• NP_001116538.2:p.Pro636Ser
• NP_001116539.1:p.Pro272Ser
• NP_001364194.1:p.Pro693Ser
• NP_005901.2:p.Pro301Ser
• NP_058518.1:p.Pro243Ser
• NP_058519.3:p.Pro618Ser
• LRG_660t1:c.1852C>T
• LRG_660t2:c.2077C>T
• LRG_660:g.120926C>T
• LRG_660p1:p.Pro618Ser
• LRG_660p2:p.Pro693Ser
• NC_000017.10:g.44087754C>T
• NG_007398.1:g.120968C>T
• P10636:p.Pro618Ser

This HGVS expression did not pass validation

Protein change:

P243S; PRO301SER

Links:

UniProtKB: P10636#VAR_010349; OMIM: 157140.0012; dbSNP: rs63751438

NCBI 1000 Genomes Browser:

rs63751438

Molecular consequence:

• NM_001203251.2:c.736-3855C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203252.2:c.823-3855C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377266.1:c.1801-3855C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377267.1:c.736-3855C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377268.1:c.649-3855C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016841.5:c.649-3855C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001123066.4:c.1906C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001123067.4:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377265.1:c.2077C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005910.6:c.901C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016834.5:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016835.5:c.1852C>T - missense variant - [Sequence Ontology: SO:0001583]