ClinVar

NM_001254757.2(ST3GAL4):c.160A>C (p.Lys54Gln)

Gene:

ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.2

Genomic location:

• Chr11: 126407001 (on Assembly GRCh38)
• Chr11: 126276896 (on Assembly GRCh37)

Preferred name:

NM_001254757.2(ST3GAL4):c.160A>C (p.Lys54Gln)

HGVS:

• NC_000011.10:g.126407001A>C
• NG_053025.1:g.56357A>C
• NM_001254757.2:c.160A>CMANE SELECT
• NM_001254758.2:c.160A>C
• NM_001254759.2:c.157A>C
• NM_001348396.2:c.223A>C
• NM_001348397.2:c.223A>C
• NM_001348398.2:c.148A>C
• NM_001348399.2:c.160A>C
• NM_001348400.2:c.148A>C
• NM_006278.3:c.148A>C
• NP_001241686.1:p.Lys54Gln
• NP_001241687.1:p.Lys54Gln
• NP_001241688.1:p.Lys53Gln
• NP_001335325.1:p.Lys75Gln
• NP_001335326.1:p.Lys75Gln
• NP_001335327.1:p.Lys50Gln
• NP_001335328.1:p.Lys54Gln
• NP_001335329.1:p.Lys50Gln
• NP_006269.1:p.Lys50Gln
• NC_000011.9:g.126276896A>C
• NM_006278.1:c.148A>C
• NR_145671.2:n.377A>C

This HGVS expression did not pass validation

Protein change:

K50Q

Molecular consequence:

• NM_001254757.2:c.160A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001254758.2:c.160A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001254759.2:c.157A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348396.2:c.223A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348397.2:c.223A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348398.2:c.148A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348399.2:c.160A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348400.2:c.148A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006278.3:c.148A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_145671.2:n.377A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]