ClinVar

NM_015386.3(COG4):c.1798G>A (p.Val600Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 70483882 (on Assembly GRCh38)
• Chr16: 70517785 (on Assembly GRCh37)

Preferred name:

NM_015386.3(COG4):c.1798G>A (p.Val600Met)

HGVS:

• NC_000016.10:g.70483882C>T
• NG_027529.1:g.44673G>A
• NM_001195139.2:c.1723G>A
• NM_001365426.1:c.1372G>A
• NM_015386.3:c.1798G>AMANE SELECT
• NP_001182068.2:p.Val575Met
• NP_001352355.1:p.Val458Met
• NP_056201.2:p.Val600Met
• NC_000016.9:g.70517785C>T
• NM_015386.2:c.1798G>A
• NR_158212.1:n.1757G>A

This HGVS expression did not pass validation

Protein change:

V458M

Links:

dbSNP: rs767599010

NCBI 1000 Genomes Browser:

rs767599010

Molecular consequence:

• NM_001195139.2:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365426.1:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015386.3:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_158212.1:n.1757G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]