ClinVar

NM_021120.4(DLG3):c.2129G>A (p.Arg710Gln)

Gene:

DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 70500033 (on Assembly GRCh38)
• ChrX: 69719883 (on Assembly GRCh37)

Preferred name:

NM_021120.4(DLG3):c.2129G>A (p.Arg710Gln)

HGVS:

• NC_000023.11:g.70500033G>A
• NG_015849.2:g.60179G>A
• NM_001166278.2:c.776G>A
• NM_020730.3:c.1214G>A
• NM_021120.4:c.2129G>AMANE SELECT
• NP_001159750.1:p.Arg259Gln
• NP_065781.1:p.Arg405Gln
• NP_066943.2:p.Arg710Gln
• NC_000023.10:g.69719883G>A
• NM_021120.2:c.2129G>A

This HGVS expression did not pass validation

Protein change:

R259Q

Molecular consequence:

• NM_001166278.2:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020730.3:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021120.4:c.2129G>A - missense variant - [Sequence Ontology: SO:0001583]