ClinVar

NM_001377265.1(MAPT):c.757A>T (p.Thr253Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 45983336 (on Assembly GRCh38)
• Chr17: 44060702 (on Assembly GRCh37)

Preferred name:

NM_001377265.1(MAPT):c.757A>T (p.Thr253Ser)

HGVS:

• NC_000017.11:g.45983336A>T
• NG_007398.1:g.93916A>T
• NG_007398.2:g.93874A>T
• NM_001123066.4:c.532A>T
• NM_001123067.4:c.287-3704A>T
• NM_001203251.2:c.287-3704A>T
• NM_001203252.2:c.374-3704A>T
• NM_001377265.1:c.757A>TMANE SELECT
• NM_001377266.1:c.757A>T
• NM_001377267.1:c.287-3704A>T
• NM_001377268.1:c.200-3704A>T
• NM_005910.6:c.374-3704A>T
• NM_016834.5:c.200-3704A>T
• NM_016835.5:c.532A>T
• NM_016841.5:c.200-3704A>T
• NP_001116538.2:p.Thr178Ser
• NP_001364194.1:p.Thr253Ser
• NP_001364195.1:p.Thr253Ser
• NP_058519.3:p.Thr178Ser
• LRG_660t1:c.532A>T
• LRG_660t2:c.757A>T
• LRG_660:g.93874A>T
• LRG_660p1:p.Thr178Ser
• LRG_660p2:p.Thr253Ser
• NC_000017.10:g.44060702A>T
• NM_005910.5:c.374-3704A>T

This HGVS expression did not pass validation

Protein change:

T178S

Links:

dbSNP: rs1598272763

NCBI 1000 Genomes Browser:

rs1598272763

Molecular consequence:

• NM_001123067.4:c.287-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203251.2:c.287-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203252.2:c.374-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377267.1:c.287-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377268.1:c.200-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005910.6:c.374-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016834.5:c.200-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016841.5:c.200-3704A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001123066.4:c.532A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377265.1:c.757A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377266.1:c.757A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016835.5:c.532A>T - missense variant - [Sequence Ontology: SO:0001583]