ClinVar

NM_004958.4(MTOR):c.3117+34G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11216114 (on Assembly GRCh38)
• Chr1: 11276171 (on Assembly GRCh37)

Preferred name:

NM_004958.4(MTOR):c.3117+34G>A

Other names:

NM_004958.3:c.3117+34G>A

HGVS:

• NC_000001.11:g.11216114C>T
• NG_033239.1:g.51438G>A
• NM_001386500.1:c.3117+34G>A
• NM_001386501.1:c.1869+34G>A
• NM_004958.4:c.3117+34G>AMANE SELECT
• LRG_734:g.51438G>A
• NC_000001.10:g.11276171C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs545304092

NCBI 1000 Genomes Browser:

rs545304092

Molecular consequence:

• NM_001386500.1:c.3117+34G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386501.1:c.1869+34G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004958.4:c.3117+34G>A - intron variant - [Sequence Ontology: SO:0001627]