ClinVar

NM_001953.5(TYMP):c.831G>A (p.Leu277=)

Genes:

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: 50526673 (on Assembly GRCh38)
• Chr22: 50965102 (on Assembly GRCh37)

Preferred name:

NM_001953.5(TYMP):c.831G>A (p.Leu277=)

Other names:

p.L277L:CTG>CTA

HGVS:

• NC_000022.11:g.50526673C>T
• NG_011860.1:g.8413G>A
• NG_016235.1:g.4767G>A
• NG_021419.1:g.23458C>T
• NM_001113755.3:c.831G>A
• NM_001113756.3:c.831G>A
• NM_001257988.1:c.831G>A
• NM_001257989.1:c.831G>A
• NM_001953.5:c.831G>AMANE SELECT
• NP_001107227.1:p.Leu277=
• NP_001107228.1:p.Leu277=
• NP_001244917.1:p.Leu277=
• NP_001244918.1:p.Leu277=
• NP_001944.1:p.Leu277=
• LRG_727t1:c.831G>A
• LRG_727t2:c.831G>A
• LRG_727:g.8413G>A
• LRG_727p1:p.Leu277=
• LRG_727p2:p.Leu277=
• NC_000022.10:g.50965102C>T
• NM_001113755.1:c.831G>A
• NM_001953.3:c.831G>A
• NM_001953.4:c.831G>A
• c.831G>A
• p.L277L

This HGVS expression did not pass validation

Links:

dbSNP: rs8141558

NCBI 1000 Genomes Browser:

rs8141558

Molecular consequence:

• NM_001113755.3:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001113756.3:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257988.1:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257989.1:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001953.5:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]