ClinVar

NM_020746.5(MAVS):c.292+3G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3857812 (on Assembly GRCh38)
• Chr20: 3838459 (on Assembly GRCh37)

Preferred name:

NM_020746.5(MAVS):c.292+3G>A

HGVS:

• NC_000020.11:g.3857812G>A
• NG_030028.1:g.16014G>A
• NM_001206491.2:c.-132+3071G>A
• NM_001385663.1:c.-256+3G>A
• NM_020746.5:c.292+3G>AMANE SELECT
• NC_000020.10:g.3838459G>A
• NM_020746.4:c.292+3G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs11905555

NCBI 1000 Genomes Browser:

rs11905555

Molecular consequence:

• NM_001206491.2:c.-132+3071G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385663.1:c.-256+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020746.5:c.292+3G>A - intron variant - [Sequence Ontology: SO:0001627]