ClinVar

NM_006348.5(COG5):c.1756C>T (p.His586Tyr)

Gene:

COG5:component of oligomeric golgi complex 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

• Chr7: 107248493 (on Assembly GRCh38)
• Chr7: 106888938 (on Assembly GRCh37)

Preferred name:

NM_006348.5(COG5):c.1756C>T (p.His586Tyr)

HGVS:

• NC_000007.14:g.107248493G>A
• NG_028095.2:g.321022C>T
• NM_001161520.2:c.1756C>T
• NM_001379511.1:c.1594C>T
• NM_001379512.1:c.1582C>T
• NM_001379513.1:c.1756C>T
• NM_001379514.1:c.1756C>T
• NM_001379515.1:c.1186C>T
• NM_001379516.1:c.1042C>T
• NM_006348.5:c.1756C>TMANE SELECT
• NM_181733.4:c.1693C>T
• NP_001154992.2:p.His586Tyr
• NP_001366440.1:p.His532Tyr
• NP_001366441.1:p.His528Tyr
• NP_001366442.1:p.His586Tyr
• NP_001366443.1:p.His586Tyr
• NP_001366444.1:p.His396Tyr
• NP_001366445.1:p.His348Tyr
• NP_006339.3:p.His617Tyr
• NP_006339.4:p.His586Tyr
• NP_859422.3:p.His565Tyr
• NC_000007.13:g.106888938G>A
• NG_028095.1:g.321022C>T
• NM_006348.3:c.1849C>T

This HGVS expression did not pass validation

Protein change:

H348Y

Links:

dbSNP: rs151129529

NCBI 1000 Genomes Browser:

rs151129529

Molecular consequence:

• NM_001161520.2:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379511.1:c.1594C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379512.1:c.1582C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379513.1:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379514.1:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379515.1:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379516.1:c.1042C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006348.5:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181733.4:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1