ClinVar

NM_001953.5(TYMP):c.246C>T (p.Gly82=)

Genes:

LOC130067864:ATAC-STARR-seq lymphoblastoid active region 19325 [Gene]
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50529307 (on Assembly GRCh38)
• Chr22: 50967736 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.246C>T (p.Gly82=)

HGVS:

• NC_000022.11:g.50529307G>A
• NG_011860.1:g.5779C>T
• NG_016235.1:g.2133C>T
• NM_001113755.3:c.246C>T
• NM_001113756.3:c.246C>T
• NM_001257988.1:c.246C>T
• NM_001257989.1:c.246C>T
• NM_001953.5:c.246C>TMANE SELECT
• NP_001107227.1:p.Gly82=
• NP_001107228.1:p.Gly82=
• NP_001244917.1:p.Gly82=
• NP_001244918.1:p.Gly82=
• NP_001944.1:p.Gly82=
• LRG_727t1:c.246C>T
• LRG_727t2:c.246C>T
• LRG_727:g.5779C>T
• LRG_727p1:p.Gly82=
• LRG_727p2:p.Gly82=
• NC_000022.10:g.50967736G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001113755.3:c.246C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001113756.3:c.246C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257988.1:c.246C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257989.1:c.246C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001953.5:c.246C>T - synonymous variant - [Sequence Ontology: SO:0001819]