ClinVar

NM_001458.5(FLNC):c.6204T>C (p.Asn2068=)

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: 128853027 (on Assembly GRCh38)
• Chr7: 128493081 (on Assembly GRCh37)

Preferred name:

NM_001458.5(FLNC):c.6204T>C (p.Asn2068=)

HGVS:

• NC_000007.14:g.128853027T>C
• NG_011807.1:g.27599T>C
• NM_001127487.2:c.6105T>C
• NM_001458.5:c.6204T>CMANE SELECT
• NP_001120959.1:p.Asn2035=
• NP_001449.3:p.Asn2068=
• NP_001449.3:p.Asn2068=
• LRG_870t1:c.6204T>C
• LRG_870:g.27599T>C
• LRG_870p1:p.Asn2068=
• NC_000007.13:g.128493081T>C
• NM_001458.4:c.6204T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs756870900

NCBI 1000 Genomes Browser:

rs756870900

Molecular consequence:

• NM_001127487.2:c.6105T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001458.5:c.6204T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2