ClinVar

NM_001953.5(TYMP):c.517-285T>C

Gene:

TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50528002 (on Assembly GRCh38)
• Chr22: 50966431 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.517-285T>C

HGVS:

• NC_000022.11:g.50528002A>G
• NG_011860.1:g.7084T>C
• NG_016235.1:g.3438T>C
• NM_001113755.3:c.517-285T>C
• NM_001113756.3:c.517-285T>C
• NM_001257988.1:c.517-285T>C
• NM_001257989.1:c.517-285T>C
• NM_001953.5:c.517-285T>CMANE SELECT
• LRG_727t1:c.517-285T>C
• LRG_727t2:c.517-285T>C
• LRG_727:g.7084T>C
• NC_000022.10:g.50966431A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs184299570

NCBI 1000 Genomes Browser:

rs184299570

Molecular consequence:

• NM_001113755.3:c.517-285T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113756.3:c.517-285T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257988.1:c.517-285T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257989.1:c.517-285T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001953.5:c.517-285T>C - intron variant - [Sequence Ontology: SO:0001627]