ClinVar

NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)

Gene:

TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50529197 (on Assembly GRCh38)
• Chr22: 50967626 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)

HGVS:

• NC_000022.11:g.50529197C>T
• NG_011860.1:g.5889G>A
• NG_016235.1:g.2243G>A
• NG_202279.1:g.38C>T
• NM_001113755.3:c.356G>A
• NM_001113756.3:c.356G>A
• NM_001257988.1:c.356G>A
• NM_001257989.1:c.356G>A
• NM_001953.5:c.356G>AMANE SELECT
• NP_001107227.1:p.Gly119Glu
• NP_001107228.1:p.Gly119Glu
• NP_001244917.1:p.Gly119Glu
• NP_001244918.1:p.Gly119Glu
• NP_001944.1:p.Gly119Glu
• LRG_727t1:c.356G>A
• LRG_727t2:c.356G>A
• LRG_727:g.5889G>A
• LRG_727p1:p.Gly119Glu
• LRG_727p2:p.Gly119Glu
• NC_000022.10:g.50967626C>T

This HGVS expression did not pass validation

Protein change:

G119E

Molecular consequence:

• NM_001113755.3:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001113756.3:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257988.1:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257989.1:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001953.5:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]