ClinVar

NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48905028 (on Assembly GRCh38)
• ChrX: 48762305 (on Assembly GRCh37)

Preferred name:

NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser)

HGVS:

• NC_000023.11:g.48905028T>C
• NG_015967.1:g.12111T>C
• NG_034300.1:g.11931A>G
• NM_001032289.3:c.427-136A>G
• NM_001042498.3:c.881A>G
• NM_001282647.2:c.427-136A>G
• NM_001282648.2:c.355-136A>G
• NM_001282649.2:c.698A>G
• NM_001282650.2:c.920A>G
• NM_001282651.2:c.965A>G
• NM_005660.3:c.881A>GMANE SELECT
• NP_001035963.1:p.Asn294Ser
• NP_001269578.1:p.Asn233Ser
• NP_001269579.1:p.Asn307Ser
• NP_001269580.1:p.Asn322Ser
• NP_005651.1:p.Asn294Ser
• NC_000023.10:g.48762305T>C
• NM_001042498.2:c.881A>G
• p.Asn294Ser

This HGVS expression did not pass validation

Protein change:

N233S

Links:

dbSNP: rs1602338059

NCBI 1000 Genomes Browser:

rs1602338059

Molecular consequence:

• NM_001032289.3:c.427-136A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282647.2:c.427-136A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282648.2:c.355-136A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042498.3:c.881A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282649.2:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282650.2:c.920A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282651.2:c.965A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005660.3:c.881A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1