ClinVar

NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)

Genes:

TAB2:TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Gene - OMIM - HGNC]
SUMO4:small ubiquitin like modifier 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.1

Genomic location:

• Chr6: 149400554 (on Assembly GRCh38)
• Chr6: 149721690 (on Assembly GRCh37)

Preferred name:

NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)

Other names:

M55V

HGVS:

• NC_000006.12:g.149400554G>A
• NG_012301.1:g.5196G>A
• NG_021386.2:g.187631G>A
• NM_001002255.2:c.163G>AMANE SELECT
• NM_001292034.3:c.1939+1370G>AMANE SELECT
• NM_001292035.3:c.1843+1370G>A
• NM_001369506.1:c.1939+1370G>A
• NM_015093.6:c.1939+1370G>A
• NP_001002255.1:p.Val55Met
• NC_000006.11:g.149721690G>A

This HGVS expression did not pass validation

Protein change:

V55M; MET55VAL

Links:

OMIM: 608829.0001; dbSNP: rs237025

NCBI 1000 Genomes Browser:

rs237025

Molecular consequence:

• NM_001292034.3:c.1939+1370G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001292035.3:c.1843+1370G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369506.1:c.1939+1370G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_015093.6:c.1939+1370G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001002255.2:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]