ClinVar

NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)

Gene:

AIPL1:AIP like 1 HSP90 co-chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6425710 (on Assembly GRCh38)
• Chr17: 6329030 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)

HGVS:

• NC_000017.11:g.6425710C>A
• NG_008474.1:g.14490G>T
• NM_001033054.3:c.716G>T
• NM_001033055.3:c.725G>T
• NM_001285399.3:c.869G>T
• NM_001285400.3:c.839G>T
• NM_001285401.3:c.833G>T
• NM_001285402.2:c.788G>T
• NM_001285403.4:c.*876G>T
• NM_014336.5:c.905G>TMANE SELECT
• NP_001028226.1:p.Arg239Leu
• NP_001028227.1:p.Arg242Leu
• NP_001272328.1:p.Arg290Leu
• NP_001272329.1:p.Arg280Leu
• NP_001272330.1:p.Arg278Leu
• NP_001272331.1:p.Arg263Leu
• NP_055151.3:p.Arg302Leu
• NC_000017.10:g.6329030C>A
• NM_014336.3:c.905G>T
• NM_014336.4:c.905G>T
• Q9NZN9:p.Arg302Leu

This HGVS expression did not pass validation

Protein change:

R239L

Links:

UniProtKB: Q9NZN9#VAR_067166; dbSNP: rs62637015

NCBI 1000 Genomes Browser:

rs62637015

Molecular consequence:

• NM_001285403.4:c.*876G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001033054.3:c.716G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033055.3:c.725G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.869G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285400.3:c.839G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.788G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.905G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1