ClinVar

NM_000565.4(IL6R):c.1183C>T (p.Arg395Trp)

Gene:

IL6R:interleukin 6 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154465156 (on Assembly GRCh38)
• Chr1: 154437632 (on Assembly GRCh37)

Preferred name:

NM_000565.4(IL6R):c.1183C>T (p.Arg395Trp)

HGVS:

• NC_000001.11:g.154465156C>T
• NG_012087.1:g.64964C>T
• NM_000565.4:c.1183C>TMANE SELECT
• NM_001382769.1:c.1282C>T
• NM_001382770.1:c.1276C>T
• NM_001382771.1:c.1231C>T
• NM_001382772.1:c.1177C>T
• NM_001382773.1:c.1137C>T
• NM_001382774.1:c.823C>T
• NM_181359.3:c.1089C>T
• NP_000556.1:p.Arg395Trp
• NP_001369698.1:p.Arg428Trp
• NP_001369699.1:p.Arg426Trp
• NP_001369700.1:p.Arg411Trp
• NP_001369701.1:p.Arg393Trp
• NP_001369702.1:p.Cys379=
• NP_001369703.1:p.Arg275Trp
• NP_852004.1:p.Cys363=
• NC_000001.10:g.154437632C>T

This HGVS expression did not pass validation

Protein change:

R275W

Links:

dbSNP: rs141102401

NCBI 1000 Genomes Browser:

rs141102401

Molecular consequence:

• NM_000565.4:c.1183C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382769.1:c.1282C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382770.1:c.1276C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382771.1:c.1231C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382772.1:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382774.1:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382773.1:c.1137C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181359.3:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]