ClinVar

NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys)

Gene:

FLNB:filamin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58136073 (on Assembly GRCh38)
• Chr3: 58121800 (on Assembly GRCh37)

Preferred name:

NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys)

HGVS:

• NC_000003.12:g.58136073T>A
• NG_012801.1:g.132674T>A
• NM_001164317.2:c.4859T>A
• NM_001164318.2:c.4766T>A
• NM_001164319.2:c.4766T>A
• NM_001457.4:c.4766T>AMANE SELECT
• NP_001157789.1:p.Met1620Lys
• NP_001157790.1:p.Met1589Lys
• NP_001157791.1:p.Met1589Lys
• NP_001448.2:p.Met1589Lys
• NC_000003.11:g.58121800T>A
• NM_001457.3:c.4766T>A

This HGVS expression did not pass validation

Protein change:

M1589K

Links:

dbSNP: rs780225340

NCBI 1000 Genomes Browser:

rs780225340

Molecular consequence:

• NM_001164317.2:c.4859T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164318.2:c.4766T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164319.2:c.4766T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001457.4:c.4766T>A - missense variant - [Sequence Ontology: SO:0001583]