ClinVar

NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)

Gene:

AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6428442 (on Assembly GRCh38)
• Chr17: 6331762 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)

HGVS:

• NC_000017.11:g.6428442G>A
• NG_008474.1:g.11758C>T
• NM_001033054.3:c.277-1385C>T
• NM_001033055.3:c.161C>T
• NM_001285399.3:c.305C>T
• NM_001285400.3:c.275C>T
• NM_001285401.3:c.341C>T
• NM_001285402.2:c.224C>T
• NM_001285403.4:c.341C>T
• NM_014336.5:c.341C>TMANE SELECT
• NP_001028227.1:p.Thr54Ile
• NP_001272328.1:p.Thr102Ile
• NP_001272329.1:p.Thr92Ile
• NP_001272330.1:p.Thr114Ile
• NP_001272331.1:p.Thr75Ile
• NP_001272332.1:p.Thr114Ile
• NP_055151.3:p.Thr114Ile
• NC_000017.10:g.6331762G>A
• NM_014336.3:c.341C>T
• NM_014336.4:c.341C>T

This HGVS expression did not pass validation

Protein change:

T102I

Links:

dbSNP: rs8069375

NCBI 1000 Genomes Browser:

rs8069375

Molecular consequence:

• NM_001033054.3:c.277-1385C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033055.3:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.305C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285400.3:c.275C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285403.4:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1