ClinVar

NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154365246 (on Assembly GRCh38)
• ChrX: 153593614 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)

HGVS:

• NC_000023.11:g.154365246G>A
• NG_011506.2:g.14393C>T
• NM_001110556.2:c.1581C>TMANE SELECT
• NM_001456.4:c.1581C>T
• NP_001104026.1:p.Arg527=
• NP_001447.2:p.Arg527=
• NP_001447.2:p.Arg527=
• LRG_1340t1:c.1581C>T
• LRG_1340:g.14393C>T
• LRG_1340p1:p.Arg527=
• NC_000023.10:g.153593614G>A
• NM_001456.3:c.1581C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs782684339

NCBI 1000 Genomes Browser:

rs782684339

Molecular consequence:

• NM_001110556.2:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001456.4:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]