ClinVar

NM_001371904.1(APOA5):c.-11C>G

Genes:

APOA5:apolipoprotein A5 [Gene - OMIM - HGNC]
LOC108491825:enhancer-blocking element 11-1-2 overlapping APOA5 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 116791871 (on Assembly GRCh38)
• Chr11: 116662587 (on Assembly GRCh37)

Preferred name:

NM_001371904.1(APOA5):c.-11C>G

HGVS:

• NC_000011.10:g.116791871G>C
• NG_015894.2:g.5550C>G
• NG_051344.1:g.926G>C
• NM_001166598.2:c.-8-3C>G
• NM_001371904.1:c.-11C>GMANE SELECT
• NM_052968.5:c.-11C>G
• NC_000011.9:g.116662587G>C
• NM_052968.4:c.-11C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001371904.1:c.-11C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_052968.5:c.-11C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166598.2:c.-8-3C>G - intron variant - [Sequence Ontology: SO:0001627]