ClinVar

NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)

Gene:

MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11124516 (on Assembly GRCh38)
• Chr1: 11184573 (on Assembly GRCh37)

Preferred name:

NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)

Other names:

NM_004958.3(MTOR):c.6644C>A; p.Ser2215Tyr; NM_004958.4(MTOR):c.6644C>A

HGVS:

• NC_000001.11:g.11124516G>T
• NG_033239.1:g.143036C>A
• NM_004958.4:c.6644C>AMANE SELECT
• NP_004949.1:p.Ser2215Tyr
• LRG_734t1:c.6644C>A
• LRG_734:g.143036C>A
• NC_000001.10:g.11184573G>T
• NM_004958.3:c.6644C>A

This HGVS expression did not pass validation

Protein change:

S2215Y; SER2215TYR

Links:

OMIM: 601231.0005; dbSNP: rs587777894

NCBI 1000 Genomes Browser:

rs587777894

Molecular consequence:

• NM_004958.4:c.6644C>A - missense variant - [Sequence Ontology: SO:0001583]