ClinVar

NM_181332.3(NLGN4X):c.847G>A (p.Ala283Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.32

Genomic location:

• ChrX: 5903831 (on Assembly GRCh38)
• ChrX: 5821872 (on Assembly GRCh37)

Preferred name:

NM_181332.3(NLGN4X):c.847G>A (p.Ala283Thr)

HGVS:

• NC_000023.11:g.5903831C>T
• NG_008881.2:g.330052G>A
• NM_001282145.2:c.847G>A
• NM_001282146.2:c.847G>A
• NM_020742.4:c.847G>A
• NM_181332.3:c.847G>AMANE SELECT
• NP_001269074.1:p.Ala283Thr
• NP_001269075.1:p.Ala283Thr
• NP_065793.1:p.Ala283Thr
• NP_851849.1:p.Ala283Thr
• NC_000023.10:g.5821872C>T

This HGVS expression did not pass validation

Protein change:

A283T

Links:

dbSNP: rs766959779

NCBI 1000 Genomes Browser:

rs766959779

Molecular consequence:

• NM_001282145.2:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282146.2:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020742.4:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181332.3:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]