ClinVar

NM_004462.5(FDFT1):c.100-40C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11808754 (on Assembly GRCh38)
• Chr8: 11666263 (on Assembly GRCh37)

Preferred name:

NM_004462.5(FDFT1):c.100-40C>T

HGVS:

• NC_000008.11:g.11808754C>T
• NG_179353.1:g.307C>T
• NM_001287742.2:c.100-40C>T
• NM_001287743.2:c.100-40C>T
• NM_001287744.2:c.-93-40C>T
• NM_001287745.2:c.-93-40C>T
• NM_001287747.2:c.-93-40C>T
• NM_001287748.2:c.-93-40C>T
• NM_001287749.2:c.-93-40C>T
• NM_001287750.2:c.237C>T
• NM_001287756.2:c.64+5844C>T
• NM_004462.5:c.100-40C>TMANE SELECT
• NP_001274679.1:p.Ser79=
• NC_000008.10:g.11666263C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001287742.2:c.100-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287743.2:c.100-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287744.2:c.-93-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287745.2:c.-93-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287747.2:c.-93-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287748.2:c.-93-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287749.2:c.-93-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287756.2:c.64+5844C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004462.5:c.100-40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287750.2:c.237C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1