ClinVar

NM_001018005.2(TPM1):c.115-262C>T

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

• Chr15: 63043765 (on Assembly GRCh38)
• Chr15: 63335964 (on Assembly GRCh37)

Preferred name:

NM_001018005.2(TPM1):c.115-262C>T

HGVS:

• NC_000015.10:g.63043765C>T
• NG_007557.1:g.6127C>T
• NM_000366.6:c.115-262C>T
• NM_001018004.2:c.115-262C>T
• NM_001018005.2:c.115-262C>TMANE SELECT
• NM_001018006.2:c.115-262C>T
• NM_001018007.2:c.174C>T
• NM_001018020.2:c.174C>T
• NM_001301244.2:c.174C>T
• NM_001365776.1:c.115-262C>T
• NM_001365777.1:c.115-262C>T
• NM_001365778.1:c.174C>T
• NM_001365779.1:c.115-262C>T
• NP_001018007.1:p.Asp58=
• NP_001018020.1:p.Asp58=
• NP_001288173.1:p.Asp58=
• NP_001352707.1:p.Asp58=
• LRG_387t1:c.115-262C>T
• LRG_387:g.6127C>T
• NC_000015.9:g.63335964C>T
• NM_001018005.1:c.115-262C>T
• NM_001018020.1:c.174C>T
• c.174C>T
• p.Asp58Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs74573041

NCBI 1000 Genomes Browser:

rs74573041

Molecular consequence:

• NM_000366.6:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018004.2:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018005.2:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018006.2:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365776.1:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365777.1:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365779.1:c.115-262C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018007.2:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001018020.2:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001301244.2:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365778.1:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2