ClinVar

NM_004462.5(FDFT1):c.100-84TCCCAC[10]

Gene:

FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11808709 - 11808710 (on Assembly GRCh38)
• Chr8: 11666218 - 11666219 (on Assembly GRCh37)

Preferred name:

NM_004462.5(FDFT1):c.100-84TCCCAC[10]

HGVS:

• NC_000008.11:g.11808713CACTCC[10]
• NG_179353.1:g.266CACTCC[10]
• NM_001287742.2:c.100-84TCCCAC[10]
• NM_001287743.2:c.100-84TCCCAC[10]
• NM_001287744.2:c.-93-84TCCCAC[10]
• NM_001287745.2:c.-93-84TCCCAC[10]
• NM_001287747.2:c.-93-84TCCCAC[10]
• NM_001287748.2:c.-93-84TCCCAC[10]
• NM_001287749.2:c.-93-84TCCCAC[10]
• NM_001287750.2:c.196CACTCC[10]
• NM_001287756.2:c.64+5800TCCCAC[10]
• NM_004462.5:c.100-84TCCCAC[10]MANE SELECT
• NP_001274679.1:p.Ser77_Cys78insHisSerHisSerHisSerHisSer
• NC_000008.10:g.11666222CACTCC[10]
• NM_001287750.1:c.208_231dup24

This HGVS expression did not pass validation

Molecular consequence:

• NM_001287750.2:c.196CACTCC[10] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001287742.2:c.100-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287743.2:c.100-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287744.2:c.-93-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287745.2:c.-93-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287747.2:c.-93-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287748.2:c.-93-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287749.2:c.-93-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287756.2:c.64+5800TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]
• NM_004462.5:c.100-84TCCCAC[10] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2