ClinVar

NM_024680.4(E2F8):c.679G>A (p.Glu227Lys)

Genes:

CSRP3-AS1:CSRP3 and E2F8 antisense RNA 1 [Gene - HGNC]
E2F8:E2F transcription factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 19234831 (on Assembly GRCh38)
• Chr11: 19256378 (on Assembly GRCh37)

Preferred name:

NM_024680.4(E2F8):c.679G>A (p.Glu227Lys)

HGVS:

• NC_000011.10:g.19234831C>T
• NM_001256371.2:c.679G>A
• NM_001256372.1:c.679G>A
• NM_024680.4:c.679G>AMANE SELECT
• NP_001243300.1:p.Glu227Lys
• NP_001243301.1:p.Glu227Lys
• NP_078956.2:p.Glu227Lys
• NC_000011.9:g.19256378C>T
• NM_024680.2:c.679G>A

This HGVS expression did not pass validation

Protein change:

E227K

Molecular consequence:

• NM_001256371.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256372.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024680.4:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]