ClinVar

NM_001377265.1(MAPT):c.220+18C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 45971963 (on Assembly GRCh38)
• Chr17: 44049329 (on Assembly GRCh37)

Preferred name:

NM_001377265.1(MAPT):c.220+18C>T

HGVS:

• NC_000017.11:g.45971963C>T
• NG_007398.1:g.82542C>T
• NG_007398.2:g.82501C>T
• NM_001123066.4:c.220+18C>T
• NM_001123067.4:c.220+18C>T
• NM_001203251.2:c.220+18C>T
• NM_001203252.2:c.220+18C>T
• NM_001377265.1:c.220+18C>TMANE SELECT
• NM_001377266.1:c.220+18C>T
• NM_001377267.1:c.220+18C>T
• NM_001377268.1:c.134-6412C>T
• NM_005910.6:c.220+18C>T
• NM_016834.5:c.134-6412C>T
• NM_016835.5:c.220+18C>T
• NM_016841.5:c.134-6412C>T
• LRG_660t1:c.220+18C>T
• LRG_660t2:c.220+18C>T
• LRG_660:g.82501C>T
• NC_000017.10:g.44049329C>T
• NM_001123066.3:c.220+18C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs75242405

NCBI 1000 Genomes Browser:

rs75242405

Molecular consequence:

• NM_001123066.4:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001123067.4:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203251.2:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001203252.2:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377265.1:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377266.1:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377267.1:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377268.1:c.134-6412C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005910.6:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016834.5:c.134-6412C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016835.5:c.220+18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016841.5:c.134-6412C>T - intron variant - [Sequence Ontology: SO:0001627]