ClinVar

NM_000565.4(IL6R):c.474C>T (p.Ala158=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154434534 (on Assembly GRCh38)
• Chr1: 154407010 (on Assembly GRCh37)

Preferred name:

NM_000565.4(IL6R):c.474C>T (p.Ala158=)

HGVS:

• NC_000001.11:g.154434534C>T
• NG_012087.1:g.34342C>T
• NM_000565.4:c.474C>TMANE SELECT
• NM_001206866.2:c.474C>T
• NM_001382769.1:c.474C>T
• NM_001382770.1:c.474C>T
• NM_001382771.1:c.474C>T
• NM_001382772.1:c.474C>T
• NM_001382773.1:c.474C>T
• NM_001382774.1:c.127-13C>T
• NM_181359.3:c.474C>T
• NP_000556.1:p.Ala158=
• NP_001193795.1:p.Ala158=
• NP_001369698.1:p.Ala158=
• NP_001369699.1:p.Ala158=
• NP_001369700.1:p.Ala158=
• NP_001369701.1:p.Ala158=
• NP_001369702.1:p.Ala158=
• NP_852004.1:p.Ala158=
• NC_000001.10:g.154407010C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs772004489

NCBI 1000 Genomes Browser:

rs772004489

Molecular consequence:

• NM_001382774.1:c.127-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000565.4:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206866.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382769.1:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382770.1:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382771.1:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382772.1:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382773.1:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181359.3:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]