ClinVar

NM_019009.4(TOLLIP):c.449A>G (p.Lys150Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 1288694 (on Assembly GRCh38)
• Chr11: 1309924 (on Assembly GRCh37)

Preferred name:

NM_019009.4(TOLLIP):c.449A>G (p.Lys150Arg)

HGVS:

• NC_000011.10:g.1288694T>C
• NM_001318512.2:c.299A>G
• NM_001318514.2:c.242A>G
• NM_001318515.2:c.183+6951A>G
• NM_001318516.2:c.266A>G
• NM_019009.4:c.449A>GMANE SELECT
• NP_001305441.1:p.Lys100Arg
• NP_001305443.1:p.Lys81Arg
• NP_001305445.1:p.Lys89Arg
• NP_061882.2:p.Lys150Arg
• NC_000011.9:g.1309924T>C
• NM_019009.3:c.449A>G

This HGVS expression did not pass validation

Protein change:

K100R

Molecular consequence:

• NM_001318515.2:c.183+6951A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318512.2:c.299A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318514.2:c.242A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318516.2:c.266A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_019009.4:c.449A>G - missense variant - [Sequence Ontology: SO:0001583]