ClinVar

NM_005660.3(SLC35A2):c.1025G>A (p.Arg342Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48904884 (on Assembly GRCh38)
• ChrX: 48762161 (on Assembly GRCh37)

Preferred name:

NM_005660.3(SLC35A2):c.1025G>A (p.Arg342Gln)

HGVS:

• NC_000023.11:g.48904884C>T
• NG_015967.1:g.11967C>T
• NG_034300.1:g.12075G>A
• NM_001032289.3:c.435G>A
• NM_001042498.3:c.1025G>A
• NM_001282647.2:c.435G>A
• NM_001282648.2:c.363G>A
• NM_001282649.2:c.842G>A
• NM_001282650.2:c.1064G>A
• NM_001282651.2:c.1109G>A
• NM_005660.3:c.1025G>AMANE SELECT
• NP_001027460.1:p.Pro145=
• NP_001035963.1:p.Arg342Gln
• NP_001269576.1:p.Pro145=
• NP_001269577.1:p.Pro121=
• NP_001269578.1:p.Arg281Gln
• NP_001269579.1:p.Arg355Gln
• NP_001269580.1:p.Arg370Gln
• NP_005651.1:p.Arg342Gln
• NC_000023.10:g.48762161C>T

This HGVS expression did not pass validation

Protein change:

R281Q

Links:

dbSNP: rs781897678

NCBI 1000 Genomes Browser:

rs781897678

Molecular consequence:

• NM_001042498.3:c.1025G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282649.2:c.842G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282650.2:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282651.2:c.1109G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005660.3:c.1025G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032289.3:c.435G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282647.2:c.435G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282648.2:c.363G>A - synonymous variant - [Sequence Ontology: SO:0001819]