ClinVar

NM_006348.5(COG5):c.1109-112G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

• Chr7: 107298458 (on Assembly GRCh38)
• Chr7: 106938903 (on Assembly GRCh37)

Preferred name:

NM_006348.5(COG5):c.1109-112G>A

HGVS:

• NC_000007.14:g.107298458C>T
• NG_028095.2:g.271057G>A
• NM_001161520.2:c.1109-112G>A
• NM_001379511.1:c.1109-112G>A
• NM_001379512.1:c.1109-112G>A
• NM_001379513.1:c.1109-112G>A
• NM_001379514.1:c.1109-112G>A
• NM_001379515.1:c.539-112G>A
• NM_001379516.1:c.395-112G>A
• NM_006348.5:c.1109-112G>AMANE SELECT
• NM_181733.4:c.1109-112G>A
• NC_000007.13:g.106938903C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs75254991

NCBI 1000 Genomes Browser:

rs75254991

Molecular consequence:

• NM_001161520.2:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379511.1:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379512.1:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379513.1:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379514.1:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379515.1:c.539-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379516.1:c.395-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006348.5:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181733.4:c.1109-112G>A - intron variant - [Sequence Ontology: SO:0001627]