ClinVar

NM_001453.3(FOXC1):c.405C>T (p.Cys135=)

Gene:

FOXC1:forkhead box C1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.3

Genomic location:

• Chr6: 1610850 (on Assembly GRCh38)
• Chr6: 1611085 (on Assembly GRCh37)

Preferred name:

NM_001453.3(FOXC1):c.405C>T (p.Cys135=)

HGVS:

• NC_000006.12:g.1610850C>T
• NG_009368.1:g.5405C>T
• NM_001453.3:c.405C>TMANE SELECT
• NP_001444.2:p.Cys135=
• LRG_1245t1:c.405C>T
• LRG_1245:g.5405C>T
• LRG_1245p1:p.Cys135=
• NC_000006.11:g.1611085C>T
• NM_001453.2:c.405C>T
• NP_001444.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs2230096

NCBI 1000 Genomes Browser:

rs2230096

Molecular consequence:

• NM_001453.3:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2