ClinVar

NM_003171.5(SUPV3L1):c.2183C>A (p.Ala728Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 69208857 (on Assembly GRCh38)
• Chr10: 70968613 (on Assembly GRCh37)

Preferred name:

NM_003171.5(SUPV3L1):c.2183C>A (p.Ala728Glu)

HGVS:

• NC_000010.11:g.69208857C>A
• NM_001301683.2:c.1790C>A
• NM_001323584.2:c.1790C>A
• NM_001323585.2:c.1820C>A
• NM_001323586.2:c.1820C>A
• NM_001323587.2:c.1196C>A
• NM_001323588.2:c.1196C>A
• NM_003171.5:c.2183C>AMANE SELECT
• NP_001288612.1:p.Ala597Glu
• NP_001310513.1:p.Ala597Glu
• NP_001310514.1:p.Ala607Glu
• NP_001310515.1:p.Ala607Glu
• NP_001310516.1:p.Ala399Glu
• NP_001310517.1:p.Ala399Glu
• NP_003162.2:p.Ala728Glu
• NC_000010.10:g.70968613C>A
• NM_003171.3:c.2183C>A
• NR_136626.2:n.2165C>A
• NR_136627.2:n.2300C>A

This HGVS expression did not pass validation

Protein change:

A399E

Molecular consequence:

• NM_001301683.2:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323584.2:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323585.2:c.1820C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323586.2:c.1820C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323587.2:c.1196C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323588.2:c.1196C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003171.5:c.2183C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136626.2:n.2165C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136627.2:n.2300C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]