ClinVar

NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154362044 (on Assembly GRCh38)
• ChrX: 153590412 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)

HGVS:

• NC_000023.11:g.154362044G>A
• NG_011506.2:g.17595C>T
• NM_001110556.2:c.2761C>TMANE SELECT
• NM_001456.4:c.2761C>T
• NP_001104026.1:p.Arg921Ter
• NP_001447.2:p.Arg921Ter
• NP_001447.2:p.Arg921Ter
• LRG_1340t1:c.2761C>T
• LRG_1340:g.17595C>T
• LRG_1340p1:p.Arg921Ter
• NC_000023.10:g.153590412G>A
• NM_001110556.1:c.2761C>T
• NM_001456.3:c.2761C>T
• NP_001447.2:p.Arg921*

This HGVS expression did not pass validation

Protein change:

R921*

Links:

dbSNP: rs398123614

NCBI 1000 Genomes Browser:

rs398123614

Molecular consequence:

• NM_001110556.2:c.2761C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001456.4:c.2761C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1