ClinVar

NM_001458.5(FLNC):c.6485-8C>T

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: 128853966 (on Assembly GRCh38)
• Chr7: 128494020 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.6485-8C>T

HGVS:

• NC_000007.14:g.128853966C>T
• NG_011807.1:g.28538C>T
• NM_001127487.2:c.6386-8C>T
• NM_001458.5:c.6485-8C>TMANE SELECT
• LRG_870t1:c.6485-8C>T
• LRG_870:g.28538C>T
• NC_000007.13:g.128494020C>T
• NM_001458.4:c.6485-8C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs369347947

NCBI 1000 Genomes Browser:

rs369347947

Molecular consequence:

• NM_001127487.2:c.6386-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001458.5:c.6485-8C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2