ClinVar

NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154365465 (on Assembly GRCh38)
• ChrX: 153593833 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)

Other names:

p.R484Q:CGG>CAG

HGVS:

• NC_000023.11:g.154365465C>T
• NG_011506.2:g.14174G>A
• NM_001110556.2:c.1451G>AMANE SELECT
• NM_001456.4:c.1451G>A
• NP_001104026.1:p.Arg484Gln
• NP_001447.2:p.Arg484Gln
• NP_001447.2:p.Arg484Gln
• LRG_1340t1:c.1451G>A
• LRG_1340:g.14174G>A
• LRG_1340p1:p.Arg484Gln
• NC_000023.10:g.153593833C>T
• NM_001456.3:c.1451G>A

This HGVS expression did not pass validation

Protein change:

R484Q

Links:

dbSNP: rs782371735

NCBI 1000 Genomes Browser:

rs782371735

Molecular consequence:

• NM_001110556.2:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001456.4:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]