ClinVar

NM_020751.3(COG6):c.153+19G>A

Gene:

COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

• Chr13: 39655898 (on Assembly GRCh38)
• Chr13: 40230035 (on Assembly GRCh37)

Preferred name:

NM_020751.3(COG6):c.153+19G>A

HGVS:

• NC_000013.11:g.39655898G>A
• NG_028352.1:g.5272G>A
• NM_001145079.2:c.153+19G>A
• NM_020751.3:c.153+19G>AMANE SELECT
• NC_000013.10:g.40230035G>A
• NM_020751.2:c.153+19G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs45508796

NCBI 1000 Genomes Browser:

rs45508796

Molecular consequence:

• NM_001145079.2:c.153+19G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020751.3:c.153+19G>A - intron variant - [Sequence Ontology: SO:0001627]