ClinVar

NM_015386.3(COG4):c.490C>T (p.Arg164Cys)

Gene:

COG4:component of oligomeric golgi complex 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 70514389 (on Assembly GRCh38)
• Chr16: 70548292 (on Assembly GRCh37)

Preferred name:

NM_015386.3(COG4):c.490C>T (p.Arg164Cys)

HGVS:

• NC_000016.10:g.70514389G>A
• NG_027529.1:g.14166C>T
• NM_001195139.2:c.478C>T
• NM_001365426.1:c.64C>T
• NM_015386.3:c.490C>TMANE SELECT
• NP_001182068.2:p.Arg160Cys
• NP_001352355.1:p.Arg22Cys
• NP_056201.2:p.Arg164Cys
• NC_000016.9:g.70548292G>A
• NR_158212.1:n.501C>T

This HGVS expression did not pass validation

Protein change:

R160C

Links:

dbSNP: rs769331901

NCBI 1000 Genomes Browser:

rs769331901

Molecular consequence:

• NM_001195139.2:c.478C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365426.1:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015386.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_158212.1:n.501C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]