ClinVar

NM_001457.4(FLNB):c.292+283G>A

Gene:

FLNB:filamin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 58009139 (on Assembly GRCh38)
• Chr3: 57994866 (on Assembly GRCh37)

Preferred name:

NM_001457.4(FLNB):c.292+283G>A

HGVS:

• NC_000003.12:g.58009139G>A
• NG_012801.1:g.5740G>A
• NM_001164317.2:c.292+283G>A
• NM_001164318.2:c.292+283G>A
• NM_001164319.2:c.292+283G>A
• NM_001457.4:c.292+283G>AMANE SELECT
• NC_000003.11:g.57994866G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs114032500

NCBI 1000 Genomes Browser:

rs114032500

Molecular consequence:

• NM_001164317.2:c.292+283G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164318.2:c.292+283G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164319.2:c.292+283G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001457.4:c.292+283G>A - intron variant - [Sequence Ontology: SO:0001627]