ClinVar

NM_001110556.2(FLNA):c.2361C>T (p.His787=)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154362704 (on Assembly GRCh38)
• ChrX: 153591072 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.2361C>T (p.His787=)

HGVS:

• NC_000023.11:g.154362704G>A
• NG_011506.2:g.16935C>T
• NM_001110556.2:c.2361C>TMANE SELECT
• NM_001456.4:c.2361C>T
• NP_001104026.1:p.His787=
• NP_001447.2:p.His787=
• LRG_1340t1:c.2361C>T
• LRG_1340:g.16935C>T
• LRG_1340p1:p.His787=
• NC_000023.10:g.153591072G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs863223620

NCBI 1000 Genomes Browser:

rs863223620

Molecular consequence:

• NM_001110556.2:c.2361C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001456.4:c.2361C>T - synonymous variant - [Sequence Ontology: SO:0001819]