ClinVar

NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)

Genes:

LOC107988032:Xq28 proximal FLNA-EMD recombination region [Gene]
FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154349490 (on Assembly GRCh38)
• ChrX: 153577858 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)

HGVS:

• NC_000023.11:g.154349490C>T
• NG_011506.2:g.30149G>A
• NG_050800.1:g.13679C>T
• NM_001110556.2:c.7628G>AMANE SELECT
• NM_001456.4:c.7604G>A
• NP_001104026.1:p.Cys2543Tyr
• NP_001447.2:p.Cys2535Tyr
• NP_001447.2:p.Cys2535Tyr
• LRG_1340t1:c.7628G>A
• LRG_1340:g.30149G>A
• LRG_1340p1:p.Cys2543Tyr
• NC_000023.10:g.153577858C>T
• NM_001110556.1:c.7628G>A
• NM_001456.3:c.7604G>A
• p.Cys2535Tyr

This HGVS expression did not pass validation

Protein change:

C2535Y

Links:

Molecular consequence:

• NM_001110556.2:c.7628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001456.4:c.7604G>A - missense variant - [Sequence Ontology: SO:0001583]