ClinVar

NM_019009.4(TOLLIP):c.505G>A (p.Val169Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 1288638 (on Assembly GRCh38)
• Chr11: 1309868 (on Assembly GRCh37)

Preferred name:

NM_019009.4(TOLLIP):c.505G>A (p.Val169Ile)

HGVS:

• NC_000011.10:g.1288638C>T
• NM_001318512.2:c.355G>A
• NM_001318514.2:c.298G>A
• NM_001318515.2:c.183+7007G>A
• NM_001318516.2:c.322G>A
• NM_019009.4:c.505G>AMANE SELECT
• NP_001305441.1:p.Val119Ile
• NP_001305443.1:p.Val100Ile
• NP_001305445.1:p.Val108Ile
• NP_061882.2:p.Val169Ile
• NC_000011.9:g.1309868C>T
• NM_019009.3:c.505G>A

This HGVS expression did not pass validation

Protein change:

V100I

Molecular consequence:

• NM_001318515.2:c.183+7007G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318512.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318514.2:c.298G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318516.2:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019009.4:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]