ClinVar

NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)

Gene:

MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 77830865 (on Assembly GRCh38)
• ChrX: 77086362 (on Assembly GRCh37)

Preferred name:

NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)

HGVS:

• NC_000023.11:g.77830865A>C
• NG_016390.1:g.69704T>G
• NM_001367916.1:c.932T>GMANE SELECT
• NM_032121.5:c.1028T>G
• NP_001354845.1:p.Val311Gly
• NP_115497.4:p.Val343Gly
• NP_115497.4:p.Val343Gly
• LRG_353t1:c.1028T>G
• LRG_353:g.69704T>G
• LRG_353p1:p.Val343Gly
• NC_000023.10:g.77086362A>C

This HGVS expression did not pass validation

Protein change:

V311G

Links:

dbSNP: rs145245774

NCBI 1000 Genomes Browser:

rs145245774

Molecular consequence:

• NM_001367916.1:c.932T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032121.5:c.1028T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1