ClinVar

NM_001105192.3(TLE3):c.1051+3A>G

Gene:

TLE3:TLE family member 3, transcriptional corepressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 70058156 (on Assembly GRCh38)
• Chr15: 70350495 (on Assembly GRCh37)

Preferred name:

NM_001105192.3(TLE3):c.1051+3A>G

HGVS:

• NC_000015.10:g.70058156T>C
• NM_001105192.3:c.1051+3A>GMANE SELECT
• NM_001282979.2:c.1051+3A>G
• NM_001282980.2:c.1054A>G
• NM_001282981.2:c.1030+3A>G
• NM_001282982.2:c.856+30A>G
• NM_005078.4:c.1054A>G
• NM_020908.3:c.1024+30A>G
• NP_001269909.1:p.Ile352Val
• NP_005069.2:p.Ile352Val
• NC_000015.9:g.70350495T>C
• NM_005078.2:c.1054A>G

This HGVS expression did not pass validation

Protein change:

I352V

Molecular consequence:

• NM_001105192.3:c.1051+3A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282979.2:c.1051+3A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282981.2:c.1030+3A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282982.2:c.856+30A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_020908.3:c.1024+30A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282980.2:c.1054A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005078.4:c.1054A>G - missense variant - [Sequence Ontology: SO:0001583]