ClinVar

NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)

Gene:

ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236747744 (on Assembly GRCh38)
• Chr1: 236911044 (on Assembly GRCh37)
• Chr1: 234977667 (on Assembly NCBI36)

Preferred name:

NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)

HGVS:

• NC_000001.11:g.236747744C>T
• NG_009081.2:g.88604C>T
• NM_001103.4:c.1484C>TMANE SELECT
• NM_001278343.2:c.1484C>T
• NM_001278344.2:c.860C>T
• NP_001094.1:p.Thr495Met
• NP_001094.1:p.Thr495Met
• NP_001265272.1:p.Thr495Met
• NP_001265273.1:p.Thr287Met
• LRG_436t1:c.1484C>T
• LRG_436:g.88604C>T
• LRG_436p1:p.Thr495Met
• NC_000001.10:g.236911044C>T
• NG_009081.1:g.66275C>T
• NM_001103.2:c.1484C>T
• NM_001103.3:c.1484C>T
• P35609:p.Thr495Met
• c.1484C>T

This HGVS expression did not pass validation

Protein change:

T287M; THR495MET

Links:

UniProtKB: P35609#VAR_071971; OMIM: 102573.0003; dbSNP: rs200248944

NCBI 1000 Genomes Browser:

rs200248944

Molecular consequence:

• NM_001103.4:c.1484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278343.2:c.1484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278344.2:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]