ClinVar

NM_005660.3(SLC35A2):c.945C>T (p.Leu315=)

Gene:

SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48904964 (on Assembly GRCh38)
• ChrX: 48762241 (on Assembly GRCh37)

Preferred name:

NM_005660.3(SLC35A2):c.945C>T (p.Leu315=)

HGVS:

• NC_000023.11:g.48904964G>A
• NG_015967.1:g.12047G>A
• NG_015967.2:g.12036G>A
• NG_034300.1:g.11995C>T
• NM_001032289.3:c.427-72C>T
• NM_001042498.3:c.945C>T
• NM_001282647.2:c.427-72C>T
• NM_001282648.2:c.355-72C>T
• NM_001282649.2:c.762C>T
• NM_001282650.2:c.984C>T
• NM_001282651.2:c.1029C>T
• NM_005660.3:c.945C>TMANE SELECT
• NP_001035963.1:p.Leu315=
• NP_001269578.1:p.Leu254=
• NP_001269579.1:p.Leu328=
• NP_001269580.1:p.Leu343=
• NP_005651.1:p.Leu315=
• NC_000023.10:g.48762241G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001032289.3:c.427-72C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282647.2:c.427-72C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282648.2:c.355-72C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042498.3:c.945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282649.2:c.762C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282650.2:c.984C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282651.2:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005660.3:c.945C>T - synonymous variant - [Sequence Ontology: SO:0001819]