ClinVar

NM_181332.2(NLGN4X):c.2218G>A (p.Asp740Asn)

Gene:

NLGN4X:neuroligin 4, X-linked [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.32

Genomic location:

• ChrX: 5893050 (on Assembly GRCh38)
• ChrX: 5811091 (on Assembly GRCh37)
• ChrX: 5821091 (on Assembly NCBI36)

Preferred name:

NM_181332.2(NLGN4X):c.2218G>A (p.Asp740Asn)

HGVS:

• NC_000023.11:g.5893050C>T
• NG_008881.1:g.340616G>A
• NM_020742.3:c.2218G>A
• NM_181332.2:c.2218G>A
• NP_065793.1:p.Asp740Asn
• NP_851849.1:p.Asp740Asn
• NC_000023.10:g.5811091C>T
• NC_000023.9:g.5821091C>T
• NM_020742.2:c.2218G>A
• NM_181332.1:c.2218G>A

This HGVS expression did not pass validation

Protein change:

D740N

Links:

dbSNP: rs149065055

NCBI 1000 Genomes Browser:

rs149065055

Molecular consequence:

• NM_181332.2:c.2218G>A - missense variant - [Sequence Ontology: SO:0001583]