ClinVar

NM_003171.5(SUPV3L1):c.2134G>A (p.Gly712Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 69208808 (on Assembly GRCh38)
• Chr10: 70968564 (on Assembly GRCh37)

Preferred name:

NM_003171.5(SUPV3L1):c.2134G>A (p.Gly712Ser)

HGVS:

• NC_000010.11:g.69208808G>A
• NM_001301683.2:c.1741G>A
• NM_001323584.2:c.1741G>A
• NM_001323585.2:c.1771G>A
• NM_001323586.2:c.1771G>A
• NM_001323587.2:c.1147G>A
• NM_001323588.2:c.1147G>A
• NM_003171.5:c.2134G>AMANE SELECT
• NP_001288612.1:p.Gly581Ser
• NP_001310513.1:p.Gly581Ser
• NP_001310514.1:p.Gly591Ser
• NP_001310515.1:p.Gly591Ser
• NP_001310516.1:p.Gly383Ser
• NP_001310517.1:p.Gly383Ser
• NP_003162.2:p.Gly712Ser
• NC_000010.10:g.70968564G>A
• NM_003171.3:c.2134G>A
• NR_136626.2:n.2116G>A
• NR_136627.2:n.2251G>A

This HGVS expression did not pass validation

Protein change:

G383S

Molecular consequence:

• NM_001301683.2:c.1741G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323584.2:c.1741G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323585.2:c.1771G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323586.2:c.1771G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323587.2:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323588.2:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003171.5:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136626.2:n.2116G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136627.2:n.2251G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]