ClinVar

NM_019009.4(TOLLIP):c.440T>A (p.Val147Glu)

Gene:

TOLLIP:toll interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 1288703 (on Assembly GRCh38)
• Chr11: 1309933 (on Assembly GRCh37)

Preferred name:

NM_019009.4(TOLLIP):c.440T>A (p.Val147Glu)

HGVS:

• NC_000011.10:g.1288703A>T
• NM_001318512.2:c.290T>A
• NM_001318514.2:c.233T>A
• NM_001318515.2:c.183+6942T>A
• NM_001318516.2:c.257T>A
• NM_019009.4:c.440T>AMANE SELECT
• NP_001305441.1:p.Val97Glu
• NP_001305443.1:p.Val78Glu
• NP_001305445.1:p.Val86Glu
• NP_061882.2:p.Val147Glu
• NC_000011.9:g.1309933A>T
• NM_019009.3:c.440T>A

This HGVS expression did not pass validation

Protein change:

V147E

Molecular consequence:

• NM_001318515.2:c.183+6942T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318512.2:c.290T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318514.2:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318516.2:c.257T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019009.4:c.440T>A - missense variant - [Sequence Ontology: SO:0001583]