ClinVar

NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter)

Gene:

TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

• Chr5: 14359499 (on Assembly GRCh38)
• Chr5: 14359608 (on Assembly GRCh37)

Preferred name:

NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter)

HGVS:

• NC_000005.10:g.14359499C>T
• NG_052962.1:g.220798C>T
• NM_007118.4:c.2359C>TMANE SELECT
• NP_009049.2:p.Gln787Ter
• NC_000005.9:g.14359608C>T
• NM_007118.2:c.2359C>T
• NM_007118.3:c.2359C>T
• NR_134469.2:n.2743C>T

This HGVS expression did not pass validation

Protein change:

Q787*

Links:

dbSNP: rs1554062588

NCBI 1000 Genomes Browser:

rs1554062588

Molecular consequence:

• NR_134469.2:n.2743C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_007118.4:c.2359C>T - nonsense - [Sequence Ontology: SO:0001587]