ClinVar

NM_001457.4(FLNB):c.808A>G (p.Met270Val)

Gene:

FLNB:filamin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58094856 (on Assembly GRCh38)
• Chr3: 58080583 (on Assembly GRCh37)

Preferred name:

NM_001457.4(FLNB):c.808A>G (p.Met270Val)

HGVS:

• NC_000003.12:g.58094856A>G
• NG_012801.1:g.91457A>G
• NM_001164317.2:c.808A>G
• NM_001164318.2:c.808A>G
• NM_001164319.2:c.808A>G
• NM_001457.4:c.808A>GMANE SELECT
• NP_001157789.1:p.Met270Val
• NP_001157790.1:p.Met270Val
• NP_001157791.1:p.Met270Val
• NP_001448.2:p.Met270Val
• NC_000003.11:g.58080583A>G
• NM_001164317.1:c.808A>G
• NM_001457.3:c.808A>G

This HGVS expression did not pass validation

Protein change:

M270V

Links:

dbSNP: rs145036794

NCBI 1000 Genomes Browser:

rs145036794

Molecular consequence:

• NM_001164317.2:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164318.2:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164319.2:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001457.4:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]