ClinVar

NM_004424.5(E4F1):c.1465C>T (p.Arg489Cys)

Gene:

E4F1:E4F transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2234260 (on Assembly GRCh38)
• Chr16: 2284261 (on Assembly GRCh37)

Preferred name:

NM_004424.5(E4F1):c.1465C>T (p.Arg489Cys)

HGVS:

• NC_000016.10:g.2234260C>T
• NM_001288776.2:c.1465C>T
• NM_001288778.2:c.1120-380C>T
• NM_004424.5:c.1465C>TMANE SELECT
• NP_001275705.2:p.Arg489Cys
• NP_004415.4:p.Arg489Cys
• NC_000016.9:g.2284261C>T
• NM_004424.3:c.1465C>T

This HGVS expression did not pass validation

Protein change:

R489C

Molecular consequence:

• NM_001288778.2:c.1120-380C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288776.2:c.1465C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004424.5:c.1465C>T - missense variant - [Sequence Ontology: SO:0001583]