ClinVar

NM_018714.3(COG1):c.1473C>T (p.Ser491=)

Gene:

COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 73201300 (on Assembly GRCh38)
• Chr17: 71197439 (on Assembly GRCh37)

Preferred name:

NM_018714.3(COG1):c.1473C>T (p.Ser491=)

HGVS:

• NC_000017.11:g.73201300C>T
• NG_008971.1:g.13267C>T
• NM_018714.3:c.1473C>TMANE SELECT
• NP_061184.1:p.Ser491=
• NC_000017.10:g.71197439C>T
• NM_018714.2:c.1473C>T
• NP_061184.1:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs1551036

NCBI 1000 Genomes Browser:

rs1551036

Molecular consequence:

• NM_018714.3:c.1473C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

12