ClinVar

NM_001953.5(TYMP):c.215-18C>T

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: 50529356 (on Assembly GRCh38)
• Chr22: 50967785 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.215-18C>T

HGVS:

• NC_000022.11:g.50529356G>A
• NG_011860.1:g.5730C>T
• NG_016235.1:g.2084C>T
• NG_202279.1:g.197G>A
• NM_001113755.3:c.215-18C>T
• NM_001113756.3:c.215-18C>T
• NM_001257988.1:c.215-18C>T
• NM_001257989.1:c.215-18C>T
• NM_001953.5:c.215-18C>TMANE SELECT
• LRG_727t1:c.215-18C>T
• LRG_727t2:c.215-18C>T
• LRG_727:g.5730C>T
• NC_000022.10:g.50967785G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001113755.3:c.215-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113756.3:c.215-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257988.1:c.215-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257989.1:c.215-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001953.5:c.215-18C>T - intron variant - [Sequence Ontology: SO:0001627]