ClinVar

NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)

Gene:

IL1RN:interleukin 1 receptor antagonist [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.1

Genomic location:

• Chr2: 113132866 (on Assembly GRCh38)
• Chr2: 113890443 (on Assembly GRCh37)

Preferred name:

NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)

HGVS:

• NC_000002.12:g.113132866G>A
• NG_021240.1:g.19974G>A
• NM_000577.5:c.475G>A
• NM_001318914.2:c.427G>A
• NM_001379360.1:c.427G>A
• NM_173841.3:c.538G>A
• NM_173842.3:c.529G>AMANE SELECT
• NM_173843.3:c.427G>A
• NP_000568.1:p.Glu159Lys
• NP_001305843.1:p.Glu143Lys
• NP_001366289.1:p.Glu143Lys
• NP_776213.1:p.Glu180Lys
• NP_776213.1:p.Glu180Lys
• NP_776214.1:p.Glu177Lys
• NP_776215.1:p.Glu143Lys
• LRG_188t1:c.538G>A
• LRG_188:g.19974G>A
• LRG_188p1:p.Glu180Lys
• NC_000002.11:g.113890443G>A
• NM_173841.2:c.538G>A

This HGVS expression did not pass validation

Protein change:

E143K

Links:

dbSNP: rs114929884

NCBI 1000 Genomes Browser:

rs114929884

Molecular consequence:

• NM_000577.5:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318914.2:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379360.1:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173841.3:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173842.3:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173843.3:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]