ClinVar

NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3865713 (on Assembly GRCh38)
• Chr20: 3846360 (on Assembly GRCh37)

Preferred name:

NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr)

HGVS:

• NC_000020.11:g.3865713G>A
• NG_030028.1:g.23915G>A
• NM_001206491.2:c.766G>A
• NM_001385663.1:c.766G>A
• NM_020746.5:c.1189G>AMANE SELECT
• NP_001193420.1:p.Ala256Thr
• NP_001372592.1:p.Ala256Thr
• NP_065797.2:p.Ala397Thr
• NC_000020.10:g.3846360G>A
• NM_020746.4:c.1189G>A
• NR_037921.2:n.1153G>A

This HGVS expression did not pass validation

Protein change:

A256T

Links:

dbSNP: rs778085486

NCBI 1000 Genomes Browser:

rs778085486

Molecular consequence:

• NM_001206491.2:c.766G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385663.1:c.766G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020746.5:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_037921.2:n.1153G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]