ClinVar

NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)

Genes:

LOC129934236:ATAC-STARR-seq lymphoblastoid silent region 11709 [Gene]
ST3GAL5:ST3 beta-galactoside alpha-2,3-sialyltransferase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

• Chr2: 85888866 (on Assembly GRCh38)
• Chr2: 86115989 (on Assembly GRCh37)

Preferred name:

NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)

HGVS:

• NC_000002.12:g.85888866G>A
• NG_012807.1:g.5169C>T
• NG_012807.2:g.5168C>T
• NG_167257.1:g.195G>A
• NM_001354223.2:c.-923C>T
• NM_001354224.2:c.-585C>T
• NM_001354226.2:c.-522C>T
• NM_001354227.2:c.-232C>T
• NM_001354229.2:c.-176C>T
• NM_001354233.2:c.-962C>T
• NM_001363847.1:c.40C>T
• NM_003896.4:c.40C>TMANE SELECT
• NP_001350776.1:p.Leu14=
• NP_003887.3:p.Leu14=
• NC_000002.11:g.86115989G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2467352501

NCBI 1000 Genomes Browser:

rs2467352501

Molecular consequence:

• NM_001354223.2:c.-923C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354224.2:c.-585C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354226.2:c.-522C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354227.2:c.-232C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354229.2:c.-176C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354233.2:c.-962C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001363847.1:c.40C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003896.4:c.40C>T - synonymous variant - [Sequence Ontology: SO:0001819]