ClinVar

NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)

Gene:

CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q34

Genomic location:

• Chr2: 210576404 (on Assembly GRCh38)
• Chr2: 211441128 (on Assembly GRCh37)

Preferred name:

NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)

HGVS:

• NC_000002.12:g.210576404C>A
• NG_008285.1:g.103720C>A
• NM_001122633.3:c.295C>A
• NM_001369256.1:c.328C>A
• NM_001369257.1:c.295C>A
• NM_001875.5:c.295C>AMANE SELECT
• NP_001116105.2:p.Pro99Thr
• NP_001356185.1:p.Pro110Thr
• NP_001356186.1:p.Pro99Thr
• NP_001866.2:p.Pro99Thr
• LRG_336t1:c.295C>A
• LRG_336:g.103720C>A
• NC_000002.11:g.211441128C>A
• NM_001875.4:c.295C>A
• NR_161225.1:n.1207C>A

This HGVS expression did not pass validation

Protein change:

P110T

Links:

dbSNP: rs140999077

NCBI 1000 Genomes Browser:

rs140999077

Molecular consequence:

• NM_001122633.3:c.295C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369256.1:c.328C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369257.1:c.295C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001875.5:c.295C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_161225.1:n.1207C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1