ClinVar

NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154362013 (on Assembly GRCh38)
• ChrX: 153590381 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)

HGVS:

• NC_000023.11:g.154362013T>A
• NG_011506.2:g.17626A>T
• NM_001110556.2:c.2792A>TMANE SELECT
• NM_001456.4:c.2792A>T
• NP_001104026.1:p.Asn931Ile
• NP_001447.2:p.Asn931Ile
• NP_001447.2:p.Asn931Ile
• LRG_1340t1:c.2792A>T
• LRG_1340:g.17626A>T
• LRG_1340p1:p.Asn931Ile
• NC_000023.10:g.153590381T>A
• NM_001456.3:c.2792A>T

This HGVS expression did not pass validation

Protein change:

N931I

Links:

dbSNP: rs1557178134

NCBI 1000 Genomes Browser:

rs1557178134

Molecular consequence:

• NM_001110556.2:c.2792A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001456.4:c.2792A>T - missense variant - [Sequence Ontology: SO:0001583]