ClinVar

NM_014336.5(AIPL1):c.964C>T (p.Arg322Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6425651 (on Assembly GRCh38)
• Chr17: 6328971 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.964C>T (p.Arg322Cys)

HGVS:

• NC_000017.11:g.6425651G>A
• NG_008474.1:g.14549C>T
• NM_001033054.3:c.775C>T
• NM_001033055.3:c.784C>T
• NM_001285399.3:c.928C>T
• NM_001285400.3:c.898C>T
• NM_001285401.3:c.892C>T
• NM_001285402.2:c.847C>T
• NM_001285403.4:c.*935C>T
• NM_014336.5:c.964C>TMANE SELECT
• NP_001028226.1:p.Arg259Cys
• NP_001028227.1:p.Arg262Cys
• NP_001272328.1:p.Arg310Cys
• NP_001272329.1:p.Arg300Cys
• NP_001272330.1:p.Arg298Cys
• NP_001272331.1:p.Arg283Cys
• NP_055151.3:p.Arg322Cys
• NC_000017.10:g.6328971G>A

This HGVS expression did not pass validation

Protein change:

R259C

Links:

dbSNP: rs201520235

NCBI 1000 Genomes Browser:

rs201520235

Molecular consequence:

• NM_001285403.4:c.*935C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001033054.3:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033055.3:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285400.3:c.898C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.892C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.964C>T - missense variant - [Sequence Ontology: SO:0001583]