ClinVar

NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48904840 (on Assembly GRCh38)
• ChrX: 48762117 (on Assembly GRCh37)

Preferred name:

NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)

HGVS:

• NC_000023.11:g.48904840C>G
• NG_015967.1:g.11923C>G
• NG_015967.2:g.11912C>G
• NG_034300.1:g.12119G>C
• NM_001032289.3:c.479G>C
• NM_001042498.3:c.1069G>C
• NM_001282647.2:c.479G>C
• NM_001282648.2:c.407G>C
• NM_001282649.2:c.886G>C
• NM_001282650.2:c.1108G>C
• NM_001282651.2:c.1153G>C
• NM_005660.3:c.1069G>CMANE SELECT
• NP_001027460.1:p.Arg160Pro
• NP_001035963.1:p.Gly357Arg
• NP_001269576.1:p.Arg160Pro
• NP_001269577.1:p.Arg136Pro
• NP_001269578.1:p.Gly296Arg
• NP_001269579.1:p.Gly370Arg
• NP_001269580.1:p.Gly385Arg
• NP_005651.1:p.Gly357Arg
• NC_000023.10:g.48762117C>G

This HGVS expression did not pass validation

Protein change:

G296R

Molecular consequence:

• NM_001032289.3:c.479G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042498.3:c.1069G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282647.2:c.479G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282648.2:c.407G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282649.2:c.886G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282650.2:c.1108G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282651.2:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005660.3:c.1069G>C - missense variant - [Sequence Ontology: SO:0001583]