ClinVar

NM_015564.3(LRRTM2):c.1158C>A (p.Ser386Arg)

Genes:

CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
LRRTM2:leucine rich repeat transmembrane neuronal 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 138873403 (on Assembly GRCh38)
• Chr5: 138209092 (on Assembly GRCh37)

Preferred name:

NM_015564.3(LRRTM2):c.1158C>A (p.Ser386Arg)

HGVS:

• NC_000005.10:g.138873403G>T
• NG_047029.1:g.125008G>T
• NM_001290307.3:c.1063-12809G>T
• NM_001290309.3:c.754-12809G>T
• NM_001290310.3:c.694-12809G>T
• NM_001323982.2:c.1063-12809G>T
• NM_001323983.1:c.1063-12809G>T
• NM_001323984.2:c.1063-12809G>T
• NM_001323985.2:c.1063-12809G>T
• NM_001323986.2:c.1063-12809G>T
• NM_001903.5:c.1063-12809G>TMANE SELECT
• NM_015564.3:c.1158C>AMANE SELECT
• NP_056379.1:p.Ser386Arg
• NC_000005.9:g.138209092G>T
• NM_015564.2:c.1158C>A

This HGVS expression did not pass validation

Protein change:

S386R

Molecular consequence:

• NM_001290307.3:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290309.3:c.754-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290310.3:c.694-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323982.2:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323983.1:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323984.2:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323985.2:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323986.2:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001903.5:c.1063-12809G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_015564.3:c.1158C>A - missense variant - [Sequence Ontology: SO:0001583]