ClinVar

NM_000565.4(IL6R):c.1245G>A (p.Pro415=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154465218 (on Assembly GRCh38)
• Chr1: 154437694 (on Assembly GRCh37)

Preferred name:

NM_000565.4(IL6R):c.1245G>A (p.Pro415=)

HGVS:

• NC_000001.11:g.154465218G>A
• NG_012087.1:g.65026G>A
• NM_000565.4:c.1245G>AMANE SELECT
• NM_001382769.1:c.1344G>A
• NM_001382770.1:c.1338G>A
• NM_001382771.1:c.1293G>A
• NM_001382772.1:c.1239G>A
• NM_001382773.1:c.*53G>A
• NM_001382774.1:c.885G>A
• NM_181359.3:c.*53G>A
• NP_000556.1:p.Pro415=
• NP_001369698.1:p.Pro448=
• NP_001369699.1:p.Pro446=
• NP_001369700.1:p.Pro431=
• NP_001369701.1:p.Pro413=
• NP_001369703.1:p.Pro295=
• NC_000001.10:g.154437694G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs146099074

NCBI 1000 Genomes Browser:

rs146099074

Molecular consequence:

• NM_001382773.1:c.*53G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_181359.3:c.*53G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000565.4:c.1245G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382769.1:c.1344G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382770.1:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382771.1:c.1293G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382772.1:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382774.1:c.885G>A - synonymous variant - [Sequence Ontology: SO:0001819]