ClinVar

NM_152263.4(TPM3):c.503G>A (p.Arg168His)

Gene:

TPM3:tropomyosin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154172971 (on Assembly GRCh38)
• Chr1: 154145447 (on Assembly GRCh37)

Preferred name:

NM_152263.4(TPM3):c.503G>A (p.Arg168His)

HGVS:

• NC_000001.11:g.154172971C>T
• NG_008621.1:g.24163G>A
• NM_001043351.2:c.392G>A
• NM_001043352.2:c.392G>A
• NM_001043353.2:c.392G>A
• NM_001278188.2:c.194G>A
• NM_001278189.2:c.392G>A
• NM_001278190.2:c.392G>A
• NM_001278191.2:c.122G>A
• NM_001349679.2:c.392G>A
• NM_001364679.2:c.503G>A
• NM_001364680.2:c.503G>A
• NM_001364681.2:c.503G>A
• NM_001364682.1:c.503G>A
• NM_001364683.1:c.392G>A
• NM_152263.4:c.503G>AMANE SELECT
• NM_153649.4:c.392G>A
• NP_001036816.1:p.Arg131His
• NP_001036817.1:p.Arg131His
• NP_001036818.1:p.Arg131His
• NP_001265117.1:p.Arg65His
• NP_001265118.1:p.Arg131His
• NP_001265119.1:p.Arg131His
• NP_001265120.1:p.Arg41His
• NP_001336608.1:p.Arg131His
• NP_001351608.1:p.Arg168His
• NP_001351609.1:p.Arg168His
• NP_001351610.1:p.Arg168His
• NP_001351611.1:p.Arg168His
• NP_001351612.1:p.Arg131His
• NP_689476.2:p.Arg168His
• NP_705935.1:p.Arg131His
• LRG_681t1:c.392G>A
• LRG_681t2:c.503G>A
• LRG_681t3:c.392G>A
• LRG_681:g.24163G>A
• LRG_681p1:p.Arg131His
• LRG_681p2:p.Arg168His
• LRG_681p3:p.Arg131His
• NC_000001.10:g.154145447C>T
• NM_152263.2:c.503G>A
• NM_152263.3:c.503G>A
• NR_103461.2:n.491G>A
• P06753:p.Arg168His
• p.(Arg168His)

This HGVS expression did not pass validation

Protein change:

R131H; ARG168HIS

Links:

UniProtKB: P06753#VAR_070069; OMIM: 191030.0005; dbSNP: rs121964852

NCBI 1000 Genomes Browser:

rs121964852

Molecular consequence:

• NM_001043351.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001043352.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001043353.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278188.2:c.194G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278189.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278190.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278191.2:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349679.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364679.2:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364680.2:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364681.2:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364682.1:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364683.1:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152263.4:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153649.4:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_103461.2:n.491G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]