ClinVar

NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128845176 (on Assembly GRCh38)
• Chr7: 128485230 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)

HGVS:

• NC_000007.14:g.128845176A>C
• NG_011807.1:g.19748A>C
• NM_001127487.2:c.3711A>C
• NM_001458.5:c.3711A>CMANE SELECT
• NP_001120959.1:p.Lys1237Asn
• NP_001449.3:p.Lys1237Asn
• NP_001449.3:p.Lys1237Asn
• LRG_870t1:c.3711A>C
• LRG_870:g.19748A>C
• LRG_870p1:p.Lys1237Asn
• NC_000007.13:g.128485230A>C
• NM_001458.4:c.3711A>C

This HGVS expression did not pass validation

Protein change:

K1237N

Links:

dbSNP: rs758220780

NCBI 1000 Genomes Browser:

rs758220780

Molecular consequence:

• NM_001127487.2:c.3711A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001458.5:c.3711A>C - missense variant - [Sequence Ontology: SO:0001583]