ClinVar

NM_003855.5(IL18R1):c.302+1284C>T

Gene:

IL18R1:interleukin 18 receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q12.1

Genomic location:

• Chr2: 102369352 (on Assembly GRCh38)
• Chr2: 102985812 (on Assembly GRCh37)

Preferred name:

NM_003855.5(IL18R1):c.302+1284C>T

HGVS:

• NC_000002.12:g.102369352C>T
• NM_001282399.2:c.-220-2601C>T
• NM_001371418.1:c.302+1284C>T
• NM_001371419.1:c.302+1284C>T
• NM_001371420.1:c.302+1284C>T
• NM_001371421.1:c.-221+1284C>T
• NM_001371422.1:c.-445-2601C>T
• NM_001371423.1:c.-445-2601C>T
• NM_001371424.1:c.-279-6555C>T
• NM_003855.5:c.302+1284C>TMANE SELECT
• NC_000002.11:g.102985812C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3771172

NCBI 1000 Genomes Browser:

rs3771172

Molecular consequence:

• NM_001282399.2:c.-220-2601C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371418.1:c.302+1284C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371419.1:c.302+1284C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371420.1:c.302+1284C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371421.1:c.-221+1284C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371422.1:c.-445-2601C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371423.1:c.-445-2601C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371424.1:c.-279-6555C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003855.5:c.302+1284C>T - intron variant - [Sequence Ontology: SO:0001627]