ClinVar

NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

6p25.3

Genomic location:

• Chr6: 1610526 - 1610534 (on Assembly GRCh38)
• Chr6: 1610761 - 1610769 (on Assembly GRCh37)

Preferred name:

NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)

HGVS:

• NC_000006.12:g.1610528CGGCGGCCG[1]
• NG_009368.1:g.5083CGGCGGCCG[1]
• NM_001453.2:c.92_100del9
• NM_001453.3:c.83CGGCGGCCG[1]MANE SELECT
• NP_001444.2:p.Ala31_Ala33del
• LRG_1245t1:c.83CGGCGGCCG[1]
• LRG_1245:g.5083CGGCGGCCG[1]
• LRG_1245p1:p.Ala31_Ala33del
• NC_000006.11:g.1610761_1610769del
• NC_000006.11:g.1610763CGGCGGCCG[1]
• NM_001453.2:c.92_100del
• NM_001453.2:c.92_100delCGGCGGCCG

This HGVS expression did not pass validation

Links:

dbSNP: rs756196843

NCBI 1000 Genomes Browser:

rs756196843

Molecular consequence:

• NM_001453.3:c.83CGGCGGCCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

3