ClinVar

NM_001111067.4(ACVR1):c.1368C>T (p.Asn456=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

• Chr2: 157738467 (on Assembly GRCh38)
• Chr2: 158594979 (on Assembly GRCh37)

Preferred name:

NM_001111067.4(ACVR1):c.1368C>T (p.Asn456=)

HGVS:

• NC_000002.12:g.157738467G>A
• NG_008004.1:g.141645C>T
• NM_001105.5:c.1368C>T
• NM_001111067.4:c.1368C>TMANE SELECT
• NM_001347663.1:c.1368C>T
• NM_001347664.1:c.1368C>T
• NM_001347665.1:c.1368C>T
• NM_001347666.1:c.1368C>T
• NM_001347667.2:c.1368C>T
• NP_001096.1:p.Asn456=
• NP_001104537.1:p.Asn456=
• NP_001334592.1:p.Asn456=
• NP_001334593.1:p.Asn456=
• NP_001334594.1:p.Asn456=
• NP_001334595.1:p.Asn456=
• NP_001334596.1:p.Asn456=
• NC_000002.11:g.158594979G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001105.5:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001111067.4:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347663.1:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347664.1:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347665.1:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347666.1:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347667.2:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]