ClinVar

NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)

Gene:

FLNB:filamin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58170676 (on Assembly GRCh38)
• Chr3: 58156403 (on Assembly GRCh37)

Preferred name:

NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)

HGVS:

• NC_000003.12:g.58170676G>A
• NG_012801.1:g.167277G>A
• NM_001164317.2:c.7816G>A
• NM_001164318.2:c.7690G>A
• NM_001164319.2:c.7651G>A
• NM_001457.4:c.7723G>AMANE SELECT
• NP_001157789.1:p.Val2606Ile
• NP_001157790.1:p.Val2564Ile
• NP_001157791.1:p.Val2551Ile
• NP_001448.2:p.Val2575Ile
• NC_000003.11:g.58156403G>A
• NM_001457.3:c.7723G>A
• p.Val2606Ile

This HGVS expression did not pass validation

Protein change:

V2551I

Links:

dbSNP: rs369949841

NCBI 1000 Genomes Browser:

rs369949841

Molecular consequence:

• NM_001164317.2:c.7816G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164318.2:c.7690G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164319.2:c.7651G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001457.4:c.7723G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function