ClinVar

NM_001110556.2(FLNA):c.623-3C>G

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154367741 (on Assembly GRCh38)
• ChrX: 153596109 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.623-3C>G

HGVS:

• NC_000023.11:g.154367741G>C
• NG_011506.2:g.11898C>G
• NM_001110556.2:c.623-3C>GMANE SELECT
• NM_001456.4:c.623-3C>G
• LRG_1340t1:c.623-3C>G
• LRG_1340:g.11898C>G
• NC_000023.10:g.153596109G>C
• NG_011506.1:g.11898C>G
• NM_001456.3:c.623-3C>G

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 9883725 Fig. 3c to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS3AS, C-G, -3

Links:

OMIM: 300017.0003; dbSNP: rs398123622

NCBI 1000 Genomes Browser:

rs398123622

Molecular consequence:

• NM_001110556.2:c.623-3C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001456.4:c.623-3C>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2