ClinVar

NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

6p25.3

Genomic location:

• Chr6: 1611783 - 1611791 (on Assembly GRCh38)
• Chr6: 1612018 - 1612026 (on Assembly GRCh37)

Preferred name:

NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)

HGVS:

• NC_000006.12:g.1611783CGG[5]
• NG_009368.1:g.6338CGG[5]
• NM_001453.2:c.1353_1361del9
• NM_001453.3:c.1338CGG[5]MANE SELECT
• NP_001444.2:p.Gly454_Gly456del
• LRG_1245t1:c.1338CGG[5]
• LRG_1245:g.6338CGG[5]
• LRG_1245p1:p.Gly454_Gly456del
• NC_000006.11:g.1612018CGG[5]
• NC_000006.11:g.1612018_1612026del
• NM_001453.2:c.1353_1361delCGGCGGCGG

This HGVS expression did not pass validation

Links:

dbSNP: rs398123612

NCBI 1000 Genomes Browser:

rs398123612

Molecular consequence:

• NM_001453.3:c.1338CGG[5] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

1