ClinVar

NM_001571.6(IRF3):c.1181A>G (p.His394Arg)

Gene:

IRF3:interferon regulatory factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 49659751 (on Assembly GRCh38)
• Chr19: 50163008 (on Assembly GRCh37)

Preferred name:

NM_001571.6(IRF3):c.1181A>G (p.His394Arg)

HGVS:

• NC_000019.10:g.49659751T>C
• NG_031810.1:g.11125A>G
• NM_001197122.2:c.1197A>G
• NM_001197123.2:c.1076A>G
• NM_001197124.2:c.800A>G
• NM_001197125.2:c.743A>G
• NM_001197126.2:c.743A>G
• NM_001197127.2:c.362A>G
• NM_001197128.2:c.362A>G
• NM_001571.6:c.1181A>GMANE SELECT
• NP_001184051.1:p.Ala399=
• NP_001184052.1:p.His359Arg
• NP_001184053.1:p.His267Arg
• NP_001184054.1:p.His248Arg
• NP_001184055.1:p.His248Arg
• NP_001184056.1:p.His121Arg
• NP_001184057.1:p.His121Arg
• NP_001562.1:p.His394Arg
• NC_000019.9:g.50163008T>C
• NM_001197122.1:c.1197A>G
• NR_045568.2:n.1563A>G

This HGVS expression did not pass validation

Protein change:

H121R

Molecular consequence:

• NM_001197123.2:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197124.2:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197125.2:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197126.2:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197127.2:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197128.2:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001571.6:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_045568.2:n.1563A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001197122.2:c.1197A>G - synonymous variant - [Sequence Ontology: SO:0001819]