ClinVar

NM_181078.3(IL21R):c.69C>T (p.Leu23=)

Gene:

IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 27434366 (on Assembly GRCh38)
• Chr16: 27445687 (on Assembly GRCh37)

Preferred name:

NM_181078.3(IL21R):c.69C>T (p.Leu23=)

HGVS:

• NC_000016.10:g.27434366C>T
• NG_012222.1:g.36965C>T
• NM_021798.4:c.69C>T
• NM_181078.3:c.69C>TMANE SELECT
• NM_181079.5:c.135C>T
• NP_068570.1:p.Leu23=
• NP_851564.1:p.Leu23=
• NP_851565.4:p.Leu45=
• LRG_731t1:c.135C>T
• LRG_731t2:c.69C>T
• LRG_731:g.36965C>T
• LRG_731p1:p.Leu45=
• LRG_731p2:p.Leu23=
• NC_000016.9:g.27445687C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs202066831

NCBI 1000 Genomes Browser:

rs202066831

Molecular consequence:

• NM_021798.4:c.69C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181078.3:c.69C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181079.5:c.135C>T - synonymous variant - [Sequence Ontology: SO:0001819]