ClinVar

NM_001110556.2(FLNA):c.6372C>T (p.His2124=)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154352779 (on Assembly GRCh38)
• ChrX: 153581147 (on Assembly GRCh37)

Preferred name:

NM_001110556.2(FLNA):c.6372C>T (p.His2124=)

HGVS:

• NC_000023.11:g.154352779G>A
• NG_011506.2:g.26860C>T
• NM_001110556.2:c.6372C>TMANE SELECT
• NM_001456.4:c.6348C>T
• NP_001104026.1:p.His2124=
• NP_001447.2:p.His2116=
• LRG_1340t1:c.6372C>T
• LRG_1340:g.26860C>T
• LRG_1340p1:p.His2124=
• NC_000023.10:g.153581147G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001110556.2:c.6372C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001456.4:c.6348C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1