ClinVar

NM_000629.3(IFNAR1):c.15C>A (p.Leu5=)

Genes:

LOC119230225:IFNAR1 promoter region [Gene]
IFNAR1:interferon alpha and beta receptor subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 33325070 (on Assembly GRCh38)
• Chr21: 34697375 (on Assembly GRCh37)

Preferred name:

NM_000629.3(IFNAR1):c.15C>A (p.Leu5=)

HGVS:

• NC_000021.9:g.33325070C>A
• NG_070953.1:g.1497C>A
• NG_070953.2:g.1497C>A
• NM_000629.3:c.15C>AMANE SELECT
• NM_001384498.1:c.15C>A
• NM_001384499.1:c.15C>A
• NM_001384500.1:c.-772C>A
• NM_001384501.1:c.15C>A
• NM_001384502.1:c.-369C>A
• NM_001384503.1:c.15C>A
• NM_001384504.1:c.-132+432C>A
• NP_000620.2:p.Leu5=
• NP_001371427.1:p.Leu5=
• NP_001371428.1:p.Leu5=
• NP_001371430.1:p.Leu5=
• NP_001371432.1:p.Leu5=
• NC_000021.8:g.34697375C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001384500.1:c.-772C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001384502.1:c.-369C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001384504.1:c.-132+432C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000629.3:c.15C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384498.1:c.15C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384499.1:c.15C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384501.1:c.15C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384503.1:c.15C>A - synonymous variant - [Sequence Ontology: SO:0001819]