ClinVar

NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)

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: 58168495 (on Assembly GRCh38)
• Chr3: 58154222 (on Assembly GRCh37)

Preferred name:

NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)

HGVS:

• NC_000003.12:g.58168495C>T
• NG_012801.1:g.165096C>T
• NM_001164317.2:c.7347C>T
• NM_001164318.2:c.7221C>T
• NM_001164319.2:c.7182C>T
• NM_001457.4:c.7254C>TMANE SELECT
• NP_001157789.1:p.Ser2449=
• NP_001157790.1:p.Ser2407=
• NP_001157791.1:p.Ser2394=
• NP_001448.2:p.Ser2418=
• NC_000003.11:g.58154222C>T
• NM_001457.3:c.7254C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs563382903

NCBI 1000 Genomes Browser:

rs563382903

Molecular consequence:

• NM_001164317.2:c.7347C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164318.2:c.7221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164319.2:c.7182C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001457.4:c.7254C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2