ClinVar

NM_000565.4(IL6R):c.1305C>T (p.Ser435=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154465278 (on Assembly GRCh38)
• Chr1: 154437754 (on Assembly GRCh37)

Preferred name:

NM_000565.4(IL6R):c.1305C>T (p.Ser435=)

HGVS:

• NC_000001.11:g.154465278C>T
• NG_012087.1:g.65086C>T
• NG_092261.1:g.414C>T
• NM_000565.3:c.1305C>T
• NM_000565.4:c.1305C>TMANE SELECT
• NM_001382769.1:c.1404C>T
• NM_001382770.1:c.1398C>T
• NM_001382771.1:c.1353C>T
• NM_001382772.1:c.1299C>T
• NM_001382773.1:c.*113C>T
• NM_001382774.1:c.945C>T
• NM_181359.3:c.*113C>T
• NP_000556.1:p.Ser435=
• NP_001369698.1:p.Ser468=
• NP_001369699.1:p.Ser466=
• NP_001369700.1:p.Ser451=
• NP_001369701.1:p.Ser433=
• NP_001369703.1:p.Ser315=
• NC_000001.10:g.154437754C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001382773.1:c.*113C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_181359.3:c.*113C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000565.4:c.1305C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382769.1:c.1404C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382770.1:c.1398C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382771.1:c.1353C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382772.1:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382774.1:c.945C>T - synonymous variant - [Sequence Ontology: SO:0001819]