ClinVar

NM_001012759.3(CTU2):c.730A>G (p.Thr244Ala)

Gene:

CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 88712898 (on Assembly GRCh38)
• Chr16: 88779306 (on Assembly GRCh37)

Preferred name:

NM_001012759.3(CTU2):c.730A>G (p.Thr244Ala)

HGVS:

• NC_000016.10:g.88712898A>G
• NM_001012759.3:c.730A>GMANE SELECT
• NM_001012762.3:c.730A>G
• NM_001318507.2:c.943A>G
• NM_001318513.2:c.469A>G
• NP_001012777.1:p.Thr244Ala
• NP_001012780.1:p.Thr244Ala
• NP_001305436.1:p.Thr315Ala
• NP_001305442.1:p.Thr157Ala
• NC_000016.9:g.88779306A>G
• NM_001012759.1:c.730A>G

This HGVS expression did not pass validation

Protein change:

T157A

Molecular consequence:

• NM_001012759.3:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001012762.3:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318507.2:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318513.2:c.469A>G - missense variant - [Sequence Ontology: SO:0001583]