ClinVar

NM_001110556.2(FLNA):c.543G>A (p.Pro181=)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154367921 (on Assembly GRCh38)
• ChrX: 153596289 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.543G>A (p.Pro181=)

HGVS:

• NC_000023.11:g.154367921C>T
• NG_011506.2:g.11718G>A
• NM_001110556.2:c.543G>AMANE SELECT
• NM_001456.4:c.543G>A
• NP_001104026.1:p.Pro181=
• NP_001447.2:p.Pro181=
• NP_001447.2:p.Pro181=
• LRG_1340t1:c.543G>A
• LRG_1340:g.11718G>A
• LRG_1340p1:p.Pro181=
• NC_000023.10:g.153596289C>T
• NM_001110556.1:c.543G>A
• NM_001456.3:c.543G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201486643

NCBI 1000 Genomes Browser:

rs201486643

Molecular consequence:

• NM_001110556.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001456.4:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]