ClinVar

NM_000962.4(PTGS1):c.960C>G (p.Pro320=)

Genes:

LOC126860757:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:125145815-125147014 [Gene]
PTGS1:prostaglandin-endoperoxide synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

• Chr9: 122383706 (on Assembly GRCh38)
• Chr9: 125145985 (on Assembly GRCh37)

Preferred name:

NM_000962.4(PTGS1):c.960C>G (p.Pro320=)

HGVS:

• NC_000009.12:g.122383706C>G
• NG_032900.1:g.17757C>G
• NG_085257.1:g.271C>G
• NM_000962.4:c.960C>GMANE SELECT
• NM_001271164.2:c.816C>G
• NM_001271165.2:c.633C>G
• NM_001271166.2:c.633C>G
• NM_001271367.2:c.633C>G
• NM_001271368.2:c.885C>G
• NM_080591.3:c.960C>G
• NP_000953.2:p.Pro320=
• NP_001258093.1:p.Pro272=
• NP_001258094.1:p.Pro211=
• NP_001258095.1:p.Pro211=
• NP_001258296.1:p.Pro211=
• NP_001258297.1:p.Pro295=
• NP_542158.1:p.Pro320=
• LRG_639t1:c.960C>G
• LRG_639:g.17757C>G
• LRG_639p1:p.Pro320=
• NC_000009.11:g.125145985C>G
• NR_073145.1:n.1011C>G
• NR_073146.1:n.1488C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_000962.4:c.960C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271164.2:c.816C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271165.2:c.633C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271166.2:c.633C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271367.2:c.633C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271368.2:c.885C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080591.3:c.960C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2