ClinVar

NM_003171.5(SUPV3L1):c.217G>A (p.Gly73Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 69180508 (on Assembly GRCh38)
• Chr10: 70940264 (on Assembly GRCh37)

Preferred name:

NM_003171.5(SUPV3L1):c.217G>A (p.Gly73Ser)

HGVS:

• NC_000010.11:g.69180508G>A
• NM_001301683.2:c.-312G>A
• NM_001323584.2:c.-225G>A
• NM_001323585.2:c.-355G>A
• NM_001323586.2:c.-220G>A
• NM_001323587.2:c.-693G>A
• NM_001323588.2:c.-741G>A
• NM_003171.5:c.217G>AMANE SELECT
• NP_003162.2:p.Gly73Ser
• NC_000010.10:g.70940264G>A
• NM_003171.3:c.217G>A
• NR_136626.2:n.275G>A
• NR_136627.2:n.275G>A

This HGVS expression did not pass validation

Protein change:

G73S

Molecular consequence:

• NM_001301683.2:c.-312G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323584.2:c.-225G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323585.2:c.-355G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323586.2:c.-220G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323587.2:c.-693G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323588.2:c.-741G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_003171.5:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136626.2:n.275G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136627.2:n.275G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]