ClinVar

NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu)

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: 50526015 (on Assembly GRCh38)
• Chr22: 50964444 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu)

HGVS:

• NC_000022.11:g.50526015T>A
• NG_011860.1:g.9071A>T
• NG_016235.1:g.5425A>T
• NG_021419.1:g.22800T>A
• NG_202277.1:g.336T>A
• NM_001113755.3:c.1286A>T
• NM_001113756.3:c.1286A>T
• NM_001169109.2:c.-14+231A>T
• NM_001169110.1:c.-28A>T
• NM_001257988.1:c.1286A>T
• NM_001257989.1:c.1301A>T
• NM_001953.5:c.1286A>TMANE SELECT
• NP_001107227.1:p.Gln429Leu
• NP_001107228.1:p.Gln429Leu
• NP_001244917.1:p.Gln429Leu
• NP_001244918.1:p.Gln434Leu
• NP_001944.1:p.Gln429Leu
• LRG_727t1:c.1286A>T
• LRG_727t2:c.1301A>T
• LRG_727:g.9071A>T
• LRG_727p1:p.Gln429Leu
• LRG_727p2:p.Gln434Leu
• NC_000022.10:g.50964444T>A

This HGVS expression did not pass validation

Protein change:

Q429L

Links:

dbSNP: rs534302884

NCBI 1000 Genomes Browser:

rs534302884

Molecular consequence:

• NM_001169110.1:c.-28A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001169109.2:c.-14+231A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113755.3:c.1286A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001113756.3:c.1286A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257988.1:c.1286A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257989.1:c.1301A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001953.5:c.1286A>T - missense variant - [Sequence Ontology: SO:0001583]