ClinVar

NM_003171.5(SUPV3L1):c.1447G>A (p.Val483Ile)

Gene:

SUPV3L1:Suv3 like RNA helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 69200428 (on Assembly GRCh38)
• Chr10: 70960184 (on Assembly GRCh37)

Preferred name:

NM_003171.5(SUPV3L1):c.1447G>A (p.Val483Ile)

HGVS:

• NC_000010.11:g.69200428G>A
• NM_001301683.2:c.1054G>A
• NM_001323584.2:c.1054G>A
• NM_001323585.2:c.1084G>A
• NM_001323586.2:c.1084G>A
• NM_001323587.2:c.460G>A
• NM_001323588.2:c.460G>A
• NM_003171.5:c.1447G>AMANE SELECT
• NP_001288612.1:p.Val352Ile
• NP_001310513.1:p.Val352Ile
• NP_001310514.1:p.Val362Ile
• NP_001310515.1:p.Val362Ile
• NP_001310516.1:p.Val154Ile
• NP_001310517.1:p.Val154Ile
• NP_003162.2:p.Val483Ile
• NC_000010.10:g.70960184G>A
• NM_003171.3:c.1447G>A
• NR_136626.2:n.1505G>A
• NR_136627.2:n.1640G>A

This HGVS expression did not pass validation

Protein change:

V154I

Molecular consequence:

• NM_001301683.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323584.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323585.2:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323586.2:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323587.2:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323588.2:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003171.5:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136626.2:n.1505G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136627.2:n.1640G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]