ClinVar

NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128847833 (on Assembly GRCh38)
• Chr7: 128487887 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)

HGVS:

• NC_000007.14:g.128847833G>T
• NG_011807.1:g.22405G>T
• NM_001127487.2:c.4425G>T
• NM_001458.5:c.4425G>TMANE SELECT
• NP_001120959.1:p.Ala1475=
• NP_001449.3:p.Ala1475=
• NP_001449.3:p.Ala1475=
• LRG_870t1:c.4425G>T
• LRG_870:g.22405G>T
• LRG_870p1:p.Ala1475=
• NC_000007.13:g.128487887G>T
• NM_001458.4:c.4425G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001127487.2:c.4425G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001458.5:c.4425G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1