ClinVar

NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 70479213 (on Assembly GRCh38)
• ChrX: 69699063 (on Assembly GRCh37)

Preferred name:

NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn)

HGVS:

• NC_000023.11:g.70479213G>A
• NG_015849.2:g.39359G>A
• NM_001166278.2:c.20G>A
• NM_020730.3:c.458G>A
• NM_021120.4:c.1469G>AMANE SELECT
• NP_001159750.1:p.Ser7Asn
• NP_065781.1:p.Ser153Asn
• NP_066943.2:p.Ser490Asn
• NC_000023.10:g.69699063G>A
• NM_021120.3:c.1469G>A

This HGVS expression did not pass validation

Protein change:

S153N

Links:

dbSNP: rs1057519008

NCBI 1000 Genomes Browser:

rs1057519008

Molecular consequence:

• NM_001166278.2:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020730.3:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021120.4:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]