ClinVar

NM_001458.5(FLNC):c.7627G>C (p.Asp2543His)

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: 128857183 (on Assembly GRCh38)
• Chr7: 128497237 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.7627G>C (p.Asp2543His)

HGVS:

• NC_000007.14:g.128857183G>C
• NG_011807.1:g.31755G>C
• NM_001127487.2:c.7528G>C
• NM_001458.5:c.7627G>CMANE SELECT
• NP_001120959.1:p.Asp2510His
• NP_001449.3:p.Asp2543His
• NP_001449.3:p.Asp2543His
• LRG_870t1:c.7627G>C
• LRG_870:g.31755G>C
• LRG_870p1:p.Asp2543His
• NC_000007.13:g.128497237G>C
• NM_001458.4:c.7627G>C

This HGVS expression did not pass validation

Protein change:

D2510H

Molecular consequence:

• NM_001127487.2:c.7528G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001458.5:c.7627G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1