ClinVar

NM_001953.5(TYMP):c.1160-29C>G

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: 50526170 (on Assembly GRCh38)
• Chr22: 50964599 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.1160-29C>G

HGVS:

• NC_000022.11:g.50526170G>C
• NG_011860.1:g.8916C>G
• NG_016235.1:g.5270C>G
• NG_021419.1:g.22955G>C
• NG_202277.1:g.491G>C
• NM_001113755.3:c.1160-29C>G
• NM_001113756.3:c.1160-29C>G
• NM_001169109.2:c.-14+76C>G
• NM_001257988.1:c.1160-29C>G
• NM_001257989.1:c.1160-14C>G
• NM_001953.5:c.1160-29C>GMANE SELECT
• LRG_727t1:c.1160-29C>G
• LRG_727t2:c.1160-14C>G
• LRG_727:g.8916C>G
• NC_000022.10:g.50964599G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs148641002

NCBI 1000 Genomes Browser:

rs148641002

Molecular consequence:

• NM_001113755.3:c.1160-29C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113756.3:c.1160-29C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001169109.2:c.-14+76C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257988.1:c.1160-29C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257989.1:c.1160-14C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001953.5:c.1160-29C>G - intron variant - [Sequence Ontology: SO:0001627]