ClinVar

NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154353346 (on Assembly GRCh38)
• ChrX: 153581714 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)

Other names:

p.S1983L:TCG>TTG

HGVS:

• NC_000023.11:g.154353346G>A
• NG_011506.2:g.26293C>T
• NM_001110556.2:c.5972C>TMANE SELECT
• NM_001456.4:c.5948C>T
• NP_001104026.1:p.Ser1991Leu
• NP_001447.2:p.Ser1983Leu
• LRG_1340t1:c.5972C>T
• LRG_1340:g.26293C>T
• LRG_1340p1:p.Ser1991Leu
• NC_000023.10:g.153581714G>A
• NM_001110556.1:c.5972C>T
• NM_001456.3:c.5948C>T

This HGVS expression did not pass validation

Protein change:

S1991L

Links:

dbSNP: rs187029309

NCBI 1000 Genomes Browser:

rs187029309

Molecular consequence:

• NM_001110556.2:c.5972C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001456.4:c.5948C>T - missense variant - [Sequence Ontology: SO:0001583]