ClinVar

NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154353317 (on Assembly GRCh38)
• ChrX: 153581685 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp)

HGVS:

• NC_000023.11:g.154353317G>A
• NG_011506.2:g.26322C>T
• NM_001110556.1:c.6001C>T
• NM_001110556.2:c.6001C>TMANE SELECT
• NM_001456.4:c.5977C>T
• NP_001104026.1:p.Arg2001Trp
• NP_001447.2:p.Arg1993Trp
• NP_001447.2:p.Arg1993Trp
• LRG_1340t1:c.6001C>T
• LRG_1340:g.26322C>T
• LRG_1340p1:p.Arg2001Trp
• NC_000023.10:g.153581685G>A
• NM_001456.3:c.5977C>T

This HGVS expression did not pass validation

Protein change:

R1993W

Links:

dbSNP: rs782160183

NCBI 1000 Genomes Browser:

rs782160183

Molecular consequence:

• NM_001110556.2:c.6001C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001456.4:c.5977C>T - missense variant - [Sequence Ontology: SO:0001583]