ClinVar

NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)

Gene:

ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

• Chr2: 157770386 (on Assembly GRCh38)
• Chr2: 158626898 (on Assembly GRCh37)

Preferred name:

NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)

HGVS:

• NC_000002.12:g.157770386T>C
• NG_008004.1:g.109726A>G
• NM_001105.5:c.772A>G
• NM_001111067.4:c.772A>GMANE SELECT
• NM_001347663.1:c.772A>G
• NM_001347664.1:c.772A>G
• NM_001347665.1:c.772A>G
• NM_001347666.1:c.772A>G
• NM_001347667.2:c.772A>G
• NP_001096.1:p.Arg258Gly
• NP_001104537.1:p.Arg258Gly
• NP_001334592.1:p.Arg258Gly
• NP_001334593.1:p.Arg258Gly
• NP_001334594.1:p.Arg258Gly
• NP_001334595.1:p.Arg258Gly
• NP_001334596.1:p.Arg258Gly
• NC_000002.11:g.158626898T>C
• NM_001105.4:c.772A>G

This HGVS expression did not pass validation

Protein change:

R258G

Links:

dbSNP: rs863224846

NCBI 1000 Genomes Browser:

rs863224846

Molecular consequence:

• NM_001105.5:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001111067.4:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347663.1:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347664.1:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347665.1:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347666.1:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347667.2:c.772A>G - missense variant - [Sequence Ontology: SO:0001583]