ClinVar

NM_020746.5(MAVS):c.1266C>T (p.Gly422=)

Gene:

MAVS:mitochondrial antiviral signaling protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3865790 (on Assembly GRCh38)
• Chr20: 3846437 (on Assembly GRCh37)

Preferred name:

NM_020746.5(MAVS):c.1266C>T (p.Gly422=)

HGVS:

• NC_000020.11:g.3865790C>T
• NG_030028.1:g.23992C>T
• NM_001206491.2:c.843C>T
• NM_001385663.1:c.843C>T
• NM_020746.5:c.1266C>TMANE SELECT
• NP_001193420.1:p.Gly281=
• NP_001372592.1:p.Gly281=
• NP_065797.2:p.Gly422=
• NC_000020.10:g.3846437C>T
• NR_037921.2:n.1230C>T
• NR_037922.1:n.1263C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_037921.2:n.1230C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001206491.2:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385663.1:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020746.5:c.1266C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1