ClinVar

NM_001039141.3(TRIOBP):c.446C>T (p.Ser149Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 37713401 (on Assembly GRCh38)
• Chr22: 38109408 (on Assembly GRCh37)

Preferred name:

NM_001039141.3(TRIOBP):c.446C>T (p.Ser149Leu)

HGVS:

• NC_000022.11:g.37713401C>T
• NG_012857.1:g.21414C>T
• NM_001039141.3:c.446C>TMANE SELECT
• NP_001034230.1:p.Ser149Leu
• NC_000022.10:g.38109408C>T

This HGVS expression did not pass validation

Protein change:

S149L

Links:

dbSNP: rs769860248

NCBI 1000 Genomes Browser:

rs769860248

Molecular consequence:

• NM_001039141.3:c.446C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1