ClinVar

NM_002184.4(IL6ST):c.2739C>T (p.Gly913=)

Gene:

IL6ST:interleukin 6 cytokine family signal transducer [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

• Chr5: 55941100 (on Assembly GRCh38)
• Chr5: 55236928 (on Assembly GRCh37)

Preferred name:

NM_002184.4(IL6ST):c.2739C>T (p.Gly913=)

HGVS:

• NC_000005.10:g.55941100G>A
• NM_001190981.2:c.2556C>T
• NM_001364275.2:c.2637C>T
• NM_001364276.2:c.2529C>T
• NM_001364277.2:c.1872C>T
• NM_001364278.2:c.1836C>T
• NM_001364279.2:c.1743C>T
• NM_002184.4:c.2739C>TMANE SELECT
• NM_175767.3:c.*1666C>T
• NP_001177910.1:p.Gly852=
• NP_001351204.1:p.Gly879=
• NP_001351205.1:p.Gly843=
• NP_001351206.1:p.Gly624=
• NP_001351207.1:p.Gly612=
• NP_001351208.1:p.Gly581=
• NP_002175.2:p.Gly913=
• NC_000005.9:g.55236928G>A
• NR_120480.2:n.3068C>T
• NR_157112.2:n.3903C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_175767.3:c.*1666C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_120480.2:n.3068C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157112.2:n.3903C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001190981.2:c.2556C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364275.2:c.2637C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364276.2:c.2529C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364277.2:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364278.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364279.2:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002184.4:c.2739C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1