ClinVar

NM_002569.3(FURIN):c.1489C>T (p.Arg497Cys)

Genes:

FES:FES proto-oncogene, tyrosine kinase [Gene - OMIM]
FURIN:furin (paired basic amino acid cleaving enzyme) [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90880206 (on Assembly GRCh38)
• Chr15: 91423436 (on Assembly GRCh37)
• Chr15: 89224440 (on Assembly NCBI36)

Preferred name:

NM_002569.3(FURIN):c.1489C>T (p.Arg497Cys)

HGVS:

• NC_000015.10:g.90880206C>T
• NM_002569.3:c.1489C>T
• NP_002560.1:p.Arg497Cys
• NC_000015.8:g.89224440C>T
• NC_000015.9:g.91423436C>T
• NM_002569.2:c.1489C>T
• NM_001143783.1:c.1-u4840C>T
• NM_001143784.1:c.1-u4840C>T
• NM_001143785.1:c.-119-u4229C>T
• NM_002005.2:c.-75-u4273C>T
• NM_002005.3:c.-96-u4252C>T

This HGVS expression did not pass validation

Protein change:

R497C

Links:

dbSNP: rs267604384

NCBI 1000 Genomes Browser:

rs267604384

Molecular consequence:

• NM_001289823.1:c.1489C>T - missense variant - [Sequence Ontology: SO:0001583]