ClinVar

NM_001953.5(TYMP):c.215-1G>C

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: 50529339 (on Assembly GRCh38)
• Chr22: 50967768 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.215-1G>C

HGVS:

• NC_000022.11:g.50529339C>G
• NG_011860.1:g.5747G>C
• NG_016235.1:g.2101G>C
• NM_001113755.3:c.215-1G>C
• NM_001113756.3:c.215-1G>C
• NM_001257988.1:c.215-1G>C
• NM_001257989.1:c.215-1G>C
• NM_001953.5:c.215-1G>CMANE SELECT
• LRG_727t1:c.215-1G>C
• LRG_727t2:c.215-1G>C
• LRG_727:g.5747G>C
• NC_000022.10:g.50967768C>G
• NM_001953.3:c.215-1G>C
• NM_001953.4:c.215-1G>C
• NM_001953.4:c.215_417del
• c.1-11G>C
• c.215-1G>C

This HGVS expression did not pass validation

Note:

Single nucleotide change at exon 2 splice acceptor causes skipping of exon 2 in the product of gene TYMP.

Nucleotide change:

IVS1AS, G-C, -1

Links:

OMIM: 131222.0010; dbSNP: rs767245071

NCBI 1000 Genomes Browser:

rs767245071

Molecular consequence:

• NM_001113755.3:c.215-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001113756.3:c.215-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001257988.1:c.215-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001257989.1:c.215-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001953.5:c.215-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]