ClinVar

NM_001039660.2(IL18BP):c.66C>T (p.His22=)

Gene:

IL18BP:interleukin 18 binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 72000388 (on Assembly GRCh38)
• Chr11: 71711434 (on Assembly GRCh37)

Preferred name:

NM_001039660.2(IL18BP):c.66C>T (p.His22=)

HGVS:

• NC_000011.10:g.72000388C>T
• NG_029021.1:g.6477C>T
• NG_029021.2:g.6481C>T
• NM_001039659.2:c.66C>T
• NM_001039660.2:c.66C>TMANE SELECT
• NM_001145055.1:c.66C>T
• NM_001145057.1:c.66C>T
• NM_005699.3:c.66C>T
• NM_173042.2:c.66C>T
• NM_173044.3:c.66C>T
• NP_001034748.1:p.His22=
• NP_001034749.1:p.His22=
• NP_001138527.1:p.His22=
• NP_001138529.1:p.His22=
• NP_005690.2:p.His22=
• NP_766630.2:p.His22=
• NP_766632.2:p.His22=
• NC_000011.9:g.71711434C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001039659.2:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001039660.2:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145055.1:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145057.1:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005699.3:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173042.2:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173044.3:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]