ClinVar

NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)

Genes:

FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128852943 (on Assembly GRCh38)
• Chr7: 128492997 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)

HGVS:

• NC_000007.14:g.128852943C>T
• NG_011807.1:g.27515C>T
• NM_001127487.2:c.6021C>T
• NM_001458.5:c.6120C>TMANE SELECT
• NP_001120959.1:p.Asp2007=
• NP_001449.3:p.Asp2040=
• NP_001449.3:p.Asp2040=
• LRG_870t1:c.6120C>T
• LRG_870:g.27515C>T
• LRG_870p1:p.Asp2040=
• NC_000007.13:g.128492997C>T
• NM_001458.4:c.6120C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs116974302

NCBI 1000 Genomes Browser:

rs116974302

Molecular consequence:

• NM_001127487.2:c.6021C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001458.5:c.6120C>T - synonymous variant - [Sequence Ontology: SO:0001819]