{{Rsnum
|rsid=2291569
|Gene=FLNC
|Chromosome=7
|position=128848680
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.07025
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=FLNC
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 20.0 | 80.0
| JPT | 0.0 | 29.5 | 70.5
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 20.0 | 80.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2291569
|allele=A
|frequency=
|uid=1103652700621
|type=heterozygous_SNP
|hugo=FLNC
|ensembl gene=ENSG00000128591
|ensembl transcript=ENST00000325888
|sift=TOLERATED
|disease=Defects in FLNC are the cause of autosomal dominant filaminopathy (MIM:609524, 601419). Myofibrillar myopathy (MFM) is a neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. Autosomal dominant filaminopathy is a form of MFM characterized by morphological features of MFM and clinical features of a limb-girdle myopathy. A heterozygous nonsense mutation which segregates with the disease, has been identified in the FLNC gene.
}}

{{GET Evidence
|gene=FLNC
|aa_change=Arg1567Gln
|aa_change_short=R1567Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2291569
|overall_frequency_n=679
|overall_frequency_d=10334
|overall_frequency=0.0657054
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.676
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}