ClinVar

NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154350097 (on Assembly GRCh38)
• ChrX: 153578465 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)

Other names:

p.P2415S:CCT>TCT

HGVS:

• NC_000023.11:g.154350097G>A
• NG_011506.2:g.29542C>T
• NM_001110556.2:c.7267C>TMANE SELECT
• NM_001456.4:c.7243C>T
• NP_001104026.1:p.Pro2423Ser
• NP_001447.2:p.Pro2415Ser
• NP_001447.2:p.Pro2415Ser
• LRG_1340t1:c.7267C>T
• LRG_1340:g.29542C>T
• LRG_1340p1:p.Pro2423Ser
• NC_000023.10:g.153578465G>A
• NM_001110556.1:c.7267C>T
• NM_001456.3:c.7243C>T

This HGVS expression did not pass validation

Protein change:

P2415S

Links:

dbSNP: rs200198847

NCBI 1000 Genomes Browser:

rs200198847

Molecular consequence:

• NM_001110556.2:c.7267C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001456.4:c.7243C>T - missense variant - [Sequence Ontology: SO:0001583]