ClinVar

NM_001953.5(TYMP):c.355G>A (p.Gly119Arg)

Gene:

TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50529198 (on Assembly GRCh38)
• Chr22: 50967627 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.355G>A (p.Gly119Arg)

HGVS:

• NC_000022.11:g.50529198C>T
• NG_011860.1:g.5888G>A
• NG_016235.1:g.2242G>A
• NM_001113755.3:c.355G>A
• NM_001113756.3:c.355G>A
• NM_001257988.1:c.355G>A
• NM_001257989.1:c.355G>A
• NM_001953.5:c.355G>AMANE SELECT
• NP_001107227.1:p.Gly119Arg
• NP_001107228.1:p.Gly119Arg
• NP_001244917.1:p.Gly119Arg
• NP_001244918.1:p.Gly119Arg
• NP_001944.1:p.Gly119Arg
• LRG_727t1:c.355G>A
• LRG_727t2:c.355G>A
• LRG_727:g.5888G>A
• LRG_727p1:p.Gly119Arg
• LRG_727p2:p.Gly119Arg
• NC_000022.10:g.50967627C>T

This HGVS expression did not pass validation

Protein change:

G119R

Links:

dbSNP: rs786205559

NCBI 1000 Genomes Browser:

rs786205559

Molecular consequence:

• NM_001113755.3:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001113756.3:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257988.1:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257989.1:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001953.5:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]