ClinVar

NM_001110556.2(FLNA):c.623-7G>A

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154367745 (on Assembly GRCh38)
• ChrX: 153596113 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.623-7G>A

HGVS:

• NC_000023.11:g.154367745C>T
• NG_011506.2:g.11894G>A
• NM_001110556.2:c.623-7G>AMANE SELECT
• NM_001456.4:c.623-7G>A
• LRG_1340t1:c.623-7G>A
• LRG_1340:g.11894G>A
• NC_000023.10:g.153596113C>T
• NM_001456.3:c.623-7G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs782670288

NCBI 1000 Genomes Browser:

rs782670288

Molecular consequence:

• NM_001110556.2:c.623-7G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001456.4:c.623-7G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1