ClinVar

NM_181303.2(NLGN3):c.1818C>T (p.Ile606=)

Gene:

NLGN3:neuroligin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71169368 (on Assembly GRCh38)
• ChrX: 70389218 (on Assembly GRCh37)

Preferred name:

NM_181303.2(NLGN3):c.1818C>T (p.Ile606=)

HGVS:

• NC_000023.11:g.71169368C>T
• NG_015874.1:g.29538C>T
• NM_001166660.2:c.1698C>T
• NM_001321276.2:c.1407C>T
• NM_018977.4:c.1758C>T
• NM_181303.2:c.1818C>TMANE SELECT
• NP_001160132.1:p.Ile566=
• NP_001308205.1:p.Ile469=
• NP_061850.2:p.Ile586=
• NP_851820.1:p.Ile606=
• NC_000023.10:g.70389218C>T
• NM_018977.3:c.1758C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs781336181

NCBI 1000 Genomes Browser:

rs781336181

Molecular consequence:

• NM_001166660.2:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321276.2:c.1407C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018977.4:c.1758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181303.2:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]