ClinVar

NM_001018005.2(TPM1):c.240+21C>T

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

• Chr15: 63044173 (on Assembly GRCh38)
• Chr15: 63336372 (on Assembly GRCh37)

Preferred name:

NM_001018005.2(TPM1):c.240+21C>T

HGVS:

• NC_000015.10:g.63044173C>T
• NG_007557.1:g.6535C>T
• NM_000366.6:c.240+21C>T
• NM_001018004.2:c.240+21C>T
• NM_001018005.2:c.240+21C>TMANE SELECT
• NM_001018006.2:c.240+21C>T
• NM_001018007.2:c.240+342C>T
• NM_001018020.2:c.240+342C>T
• NM_001301244.2:c.240+342C>T
• NM_001365776.1:c.240+21C>T
• NM_001365777.1:c.240+21C>T
• NM_001365778.1:c.366+21C>T
• NM_001365779.1:c.240+21C>T
• LRG_387t1:c.240+21C>T
• LRG_387:g.6535C>T
• NC_000015.9:g.63336372C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201979210

NCBI 1000 Genomes Browser:

rs201979210

Molecular consequence:

• NM_000366.6:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018004.2:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018005.2:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018006.2:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018007.2:c.240+342C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018020.2:c.240+342C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301244.2:c.240+342C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365776.1:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365777.1:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365778.1:c.366+21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365779.1:c.240+21C>T - intron variant - [Sequence Ontology: SO:0001627]