ClinVar

NM_003260.5(TLE2):c.946G>A (p.Gly316Arg)

Gene:

TLE2:TLE family member 2, transcriptional corepressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 3011088 (on Assembly GRCh38)
• Chr19: 3011086 (on Assembly GRCh37)

Preferred name:

NM_003260.5(TLE2):c.946G>A (p.Gly316Arg)

HGVS:

• NC_000019.10:g.3011088C>T
• NM_001144761.2:c.988G>A
• NM_001144762.2:c.580G>A
• NM_001300846.2:c.949G>A
• NM_003260.5:c.946G>AMANE SELECT
• NP_001138233.1:p.Gly330Arg
• NP_001138234.1:p.Gly194Arg
• NP_001287775.1:p.Gly317Arg
• NP_003251.2:p.Gly316Arg
• NC_000019.9:g.3011086C>T

This HGVS expression did not pass validation

Protein change:

G194R

Links:

dbSNP: rs201317355

NCBI 1000 Genomes Browser:

rs201317355

Molecular consequence:

• NM_001144761.2:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144762.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300846.2:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003260.5:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]