ClinVar

NM_001102371.2(FOXRED2):c.1270G>A (p.Ala424Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 36498103 (on Assembly GRCh38)
• Chr22: 36894150 (on Assembly GRCh37)

Preferred name:

NM_001102371.2(FOXRED2):c.1270G>A (p.Ala424Thr)

HGVS:

• NC_000022.11:g.36498103C>T
• NM_001102371.2:c.1270G>AMANE SELECT
• NM_001363041.2:c.1000G>A
• NM_001363042.2:c.1000G>A
• NM_024955.6:c.1270G>A
• NP_001095841.1:p.Ala424Thr
• NP_001349970.1:p.Ala334Thr
• NP_001349971.1:p.Ala334Thr
• NP_079231.4:p.Ala424Thr
• NC_000022.10:g.36894150C>T
• NM_024955.5:c.1270G>A

This HGVS expression did not pass validation

Protein change:

A334T

Molecular consequence:

• NM_001102371.2:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363041.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363042.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024955.6:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]