ClinVar

NM_001458.5(FLNC):c.651C>T (p.Asn217=)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128837209 (on Assembly GRCh38)
• Chr7: 128477263 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.651C>T (p.Asn217=)

HGVS:

• NC_000007.14:g.128837209C>T
• NG_011807.1:g.11781C>T
• NM_001127487.2:c.651C>T
• NM_001458.5:c.651C>TMANE SELECT
• NP_001120959.1:p.Asn217=
• NP_001449.3:p.Asn217=
• LRG_870t1:c.651C>T
• LRG_870:g.11781C>T
• NC_000007.13:g.128477263C>T
• NM_001458.4:c.651C>T
• NM_001458.5:c.651C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370425863

NCBI 1000 Genomes Browser:

rs370425863

Molecular consequence:

• NM_001127487.2:c.651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001458.5:c.651C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1