ClinVar

NM_001953.5(TYMP):c.1159+5G>A

Genes:

LOC130067862:ATAC-STARR-seq lymphoblastoid silent region 13986 [Gene]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50526241 (on Assembly GRCh38)
• Chr22: 50964670 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.1159+5G>A

HGVS:

• NC_000022.11:g.50526241C>T
• NG_011860.1:g.8845G>A
• NG_016235.1:g.5199G>A
• NG_021419.1:g.23026C>T
• NG_202277.1:g.562C>T
• NM_001113755.3:c.1159+5G>A
• NM_001113756.3:c.1159+5G>A
• NM_001169109.2:c.-14+5G>A
• NM_001257988.1:c.1159+5G>A
• NM_001257989.1:c.1159+5G>A
• NM_001953.5:c.1159+5G>AMANE SELECT
• LRG_727t1:c.1159+5G>A
• LRG_727t2:c.1159+5G>A
• LRG_727:g.8845G>A
• NC_000022.10:g.50964670C>T
• NM_001953.3:c.1159+5G>A
• NM_001953.5:c.1159+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs748559929

NCBI 1000 Genomes Browser:

rs748559929

Molecular consequence:

• NM_001113755.3:c.1159+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113756.3:c.1159+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001169109.2:c.-14+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257988.1:c.1159+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257989.1:c.1159+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001953.5:c.1159+5G>A - intron variant - [Sequence Ontology: SO:0001627]