ClinVar

NM_001457.4(FLNB):c.7208C>T (p.Ser2403Leu)

Genes:

FLNB-AS1:FLNB antisense RNA 1 [Gene - HGNC]
FLNB:filamin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58168449 (on Assembly GRCh38)
• Chr3: 58154176 (on Assembly GRCh37)

Preferred name:

NM_001457.4(FLNB):c.7208C>T (p.Ser2403Leu)

HGVS:

• NC_000003.12:g.58168449C>T
• NG_012801.1:g.165050C>T
• NM_001164317.2:c.7301C>T
• NM_001164318.2:c.7175C>T
• NM_001164319.2:c.7136C>T
• NM_001457.4:c.7208C>TMANE SELECT
• NP_001157789.1:p.Ser2434Leu
• NP_001157790.1:p.Ser2392Leu
• NP_001157791.1:p.Ser2379Leu
• NP_001448.2:p.Ser2403Leu
• NP_001448.2:p.Ser2403Leu
• NC_000003.11:g.58154176C>T
• NM_001457.2:c.7208C>T

This HGVS expression did not pass validation

Protein change:

S2379L

Molecular consequence:

• NM_001164317.2:c.7301C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164318.2:c.7175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164319.2:c.7136C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001457.4:c.7208C>T - missense variant - [Sequence Ontology: SO:0001583]