ClinVar

NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)

Gene:

TPM3:tropomyosin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154172927 (on Assembly GRCh38)
• Chr1: 154145403 (on Assembly GRCh37)

Preferred name:

NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)

Other names:

NM_152263.4(TPM3):c.547C>T; p.Arg183Ter

HGVS:

• NC_000001.11:g.154172927G>A
• NG_008621.1:g.24207C>T
• NM_001043351.2:c.436C>T
• NM_001043352.2:c.436C>T
• NM_001043353.2:c.436C>T
• NM_001278188.2:c.238C>T
• NM_001278189.2:c.436C>T
• NM_001278190.2:c.436C>T
• NM_001278191.2:c.166C>T
• NM_001349679.2:c.436C>T
• NM_001364679.2:c.547C>T
• NM_001364680.2:c.547C>T
• NM_001364681.2:c.547C>T
• NM_001364682.1:c.547C>T
• NM_001364683.1:c.436C>T
• NM_152263.4:c.547C>TMANE SELECT
• NM_153649.4:c.436C>T
• NP_001036816.1:p.Arg146Ter
• NP_001036817.1:p.Arg146Ter
• NP_001036818.1:p.Arg146Ter
• NP_001265117.1:p.Arg80Ter
• NP_001265118.1:p.Arg146Ter
• NP_001265119.1:p.Arg146Ter
• NP_001265120.1:p.Arg56Ter
• NP_001336608.1:p.Arg146Ter
• NP_001351608.1:p.Arg183Ter
• NP_001351609.1:p.Arg183Ter
• NP_001351610.1:p.Arg183Ter
• NP_001351611.1:p.Arg183Ter
• NP_001351612.1:p.Arg146Ter
• NP_689476.2:p.Arg183Ter
• NP_705935.1:p.Arg146Ter
• LRG_681t1:c.436C>T
• LRG_681t2:c.547C>T
• LRG_681t3:c.436C>T
• LRG_681:g.24207C>T
• LRG_681p1:p.Arg146Ter
• LRG_681p2:p.Arg183Ter
• LRG_681p3:p.Arg146Ter
• NC_000001.10:g.154145403G>A
• NC_000001.11:g.154172927G>A
• NP_689476.2:p.Arg183*
• NR_103461.2:n.535C>T

This HGVS expression did not pass validation

Protein change:

R146*

Links:

dbSNP: rs727504181

NCBI 1000 Genomes Browser:

rs727504181

Molecular consequence:

• NR_103461.2:n.535C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001043351.2:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001043352.2:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001043353.2:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001278188.2:c.238C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001278189.2:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001278190.2:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001278191.2:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001349679.2:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001364679.2:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001364680.2:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001364681.2:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001364682.1:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001364683.1:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_152263.4:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_153649.4:c.436C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2