ClinVar

NM_000207.3(INS):c.187+282G>A

Genes:

INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
INS:insulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2160503 (on Assembly GRCh38)
• Chr11: 2181733 (on Assembly GRCh37)

Preferred name:

NM_000207.3(INS):c.187+282G>A

HGVS:

• NC_000011.10:g.2160503C>T
• NG_007114.1:g.5692G>A
• NG_050578.1:g.5707G>A
• NM_000207.3:c.187+282G>AMANE SELECT
• NM_001042376.3:c.187+282G>A
• NM_001185097.2:c.187+282G>A
• NM_001185098.2:c.187+282G>A
• NM_001291897.2:c.187+282G>A
• NC_000011.9:g.2181733C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs113412173

NCBI 1000 Genomes Browser:

rs113412173

Molecular consequence:

• NM_000207.3:c.187+282G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042376.3:c.187+282G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001185097.2:c.187+282G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001185098.2:c.187+282G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291897.2:c.187+282G>A - intron variant - [Sequence Ontology: SO:0001627]