ClinVar

NM_001039141.3(TRIOBP):c.5322+5281GGC[10]

Gene:

TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 37746312 - 37746313 (on Assembly GRCh38)
• Chr22: 38142319 - 38142320 (on Assembly GRCh37)

Preferred name:

NM_001039141.3(TRIOBP):c.5322+5281GGC[10]

HGVS:

• NC_000022.11:g.37746315CGG[10]
• NG_012857.1:g.54328CGG[10]
• NM_001039141.3:c.5322+5281GGC[10]MANE SELECT
• NM_007032.5:c.78CGG[10]
• NM_138632.2:c.78CGG[10]
• NP_008963.3:p.Gly33_Val34insGlyGlyGly
• NP_619538.2:p.Gly33_Val34insGlyGlyGly
• NC_000022.10:g.38142322CGG[10]
• NM_007032.5:c.90_98dup9

This HGVS expression did not pass validation

Molecular consequence:

• NM_007032.5:c.78CGG[10] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_138632.2:c.78CGG[10] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001039141.3:c.5322+5281GGC[10] - intron variant - [Sequence Ontology: SO:0001627]