ClinVar

NM_001102371.2(FOXRED2):c.896C>T (p.Thr299Ile)

Gene:

FOXRED2:FAD dependent oxidoreductase domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 36504251 (on Assembly GRCh38)
• Chr22: 36900298 (on Assembly GRCh37)

Preferred name:

NM_001102371.2(FOXRED2):c.896C>T (p.Thr299Ile)

HGVS:

• NC_000022.11:g.36504251G>A
• NM_001102371.2:c.896C>TMANE SELECT
• NM_001363041.2:c.779+264C>T
• NM_001363042.2:c.779+264C>T
• NM_024955.6:c.896C>T
• NP_001095841.1:p.Thr299Ile
• NP_079231.4:p.Thr299Ile
• NC_000022.10:g.36900298G>A
• NM_024955.5:c.896C>T

This HGVS expression did not pass validation

Protein change:

T299I

Molecular consequence:

• NM_001363041.2:c.779+264C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363042.2:c.779+264C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001102371.2:c.896C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024955.6:c.896C>T - missense variant - [Sequence Ontology: SO:0001583]