ClinVar

NM_001571.6(IRF3):c.1016C>T (p.Ser339Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 49660795 (on Assembly GRCh38)
• Chr19: 50164052 (on Assembly GRCh37)

Preferred name:

NM_001571.6(IRF3):c.1016C>T (p.Ser339Leu)

HGVS:

• NC_000019.10:g.49660795G>A
• NG_031810.1:g.10081C>T
• NM_001197122.2:c.1032C>T
• NM_001197123.2:c.911C>T
• NM_001197124.2:c.635C>T
• NM_001197125.2:c.578C>T
• NM_001197126.2:c.578C>T
• NM_001197127.2:c.197C>T
• NM_001197128.2:c.197C>T
• NM_001571.6:c.1016C>TMANE SELECT
• NP_001184051.1:p.Leu344=
• NP_001184052.1:p.Ser304Leu
• NP_001184053.1:p.Ser212Leu
• NP_001184054.1:p.Ser193Leu
• NP_001184055.1:p.Ser193Leu
• NP_001184056.1:p.Ser66Leu
• NP_001184057.1:p.Ser66Leu
• NP_001562.1:p.Ser339Leu
• NC_000019.9:g.50164052G>A
• NM_001197122.1:c.1032C>T
• NR_045568.2:n.1398C>T

This HGVS expression did not pass validation

Protein change:

S193L

Molecular consequence:

• NM_001197123.2:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197124.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197125.2:c.578C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197126.2:c.578C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197127.2:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197128.2:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001571.6:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045568.2:n.1398C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001197122.2:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]