ClinVar

NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)

Gene:

ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51920831 (on Assembly GRCh38)
• Chr12: 52314615 (on Assembly GRCh37)

Preferred name:

NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)

HGVS:

• NC_000012.12:g.51920831C>T
• NG_009549.1:g.18414C>T
• NM_000020.3:c.1450C>TMANE SELECT
• NM_001077401.2:c.1450C>T
• NP_000011.2:p.Arg484Trp
• NP_000011.2:p.Arg484Trp
• NP_001070869.1:p.Arg484Trp
• LRG_543t1:c.1450C>T
• LRG_543:g.18414C>T
• LRG_543p1:p.Arg484Trp
• NC_000012.11:g.52314615C>T
• NM_000020.2:c.1450C>T
• NM_001077401.1:c.1450C>T
• NP_000011.2:p.R484W
• P37023:p.Arg484Trp

This HGVS expression did not pass validation

Protein change:

R484W; ARG484TRP

Links:

UniProtKB: P37023#VAR_026815; OMIM: 601284.0010; dbSNP: rs121909288

NCBI 1000 Genomes Browser:

rs121909288

Molecular consequence:

• NM_000020.3:c.1450C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077401.2:c.1450C>T - missense variant - [Sequence Ontology: SO:0001583]