ClinVar

NM_001039141.3(TRIOBP):c.1740C>A (p.Ala580=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 37724296 (on Assembly GRCh38)
• Chr22: 38120303 (on Assembly GRCh37)
• Chr22: 36450249 (on Assembly NCBI36)

Preferred name:

NM_001039141.3(TRIOBP):c.1740C>A (p.Ala580=)

HGVS:

• NC_000022.11:g.37724296C>A
• NG_012857.1:g.32309C>A
• NM_001039141.2:c.1740C>A
• NM_001039141.3:c.1740C>AMANE SELECT
• NP_001034230.1:p.Ala580=
• NC_000022.10:g.38120303C>A
• NC_000022.9:g.36450249C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs79945262

NCBI 1000 Genomes Browser:

rs79945262

Molecular consequence:

• NM_001039141.3:c.1740C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1