ClinVar

NM_000039.3(APOA1):c.43+12C>T

Genes:

APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 116837333 (on Assembly GRCh38)
• Chr11: 116708049 (on Assembly GRCh37)

Preferred name:

NM_000039.3(APOA1):c.43+12C>T

HGVS:

• NC_000011.10:g.116837333G>A
• NG_012021.1:g.5290C>T
• NM_000039.3:c.43+12C>TMANE SELECT
• NM_001318017.2:c.43+12C>T
• NM_001318018.2:c.43+12C>T
• NM_001318021.2:c.-241+12C>T
• NM_001425090.1:c.43+12C>T
• NM_001425091.1:c.-128+12C>T
• NM_001425092.1:c.-277+12C>T
• NM_001425093.1:c.43+12C>T
• LRG_767:g.5290C>T
• NC_000011.9:g.116708049G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1464230720

NCBI 1000 Genomes Browser:

rs1464230720

Molecular consequence:

• NM_000039.3:c.43+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318017.2:c.43+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318018.2:c.43+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318021.2:c.-241+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425090.1:c.43+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425091.1:c.-128+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425092.1:c.-277+12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425093.1:c.43+12C>T - intron variant - [Sequence Ontology: SO:0001627]