ClinVar

NM_152756.5(RICTOR):c.1139G>A (p.Arg380His)

Gene:

RICTOR:RPTOR independent companion of MTOR complex 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

• Chr5: 38967349 (on Assembly GRCh38)
• Chr5: 38967451 (on Assembly GRCh37)

Preferred name:

NM_152756.5(RICTOR):c.1139G>A (p.Arg380His)

HGVS:

• NC_000005.10:g.38967349C>T
• NM_001285439.2:c.1139G>A
• NM_001285440.2:c.284G>A
• NM_152756.5:c.1139G>AMANE SELECT
• NP_001272368.1:p.Arg380His
• NP_001272369.1:p.Arg95His
• NP_689969.2:p.Arg380His
• NC_000005.9:g.38967451C>T
• NM_152756.3:c.1139G>A

This HGVS expression did not pass validation

Protein change:

R380H

Molecular consequence:

• NM_001285439.2:c.1139G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285440.2:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152756.5:c.1139G>A - missense variant - [Sequence Ontology: SO:0001583]