ClinVar

NM_014336.5(AIPL1):c.111C>T (p.Phe37=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6434084 (on Assembly GRCh38)
• Chr17: 6337404 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.111C>T (p.Phe37=)

HGVS:

• NC_000017.11:g.6434084G>A
• NG_008474.1:g.6116C>T
• NM_001033054.3:c.111C>T
• NM_001033055.3:c.96+925C>T
• NM_001285399.3:c.97-22C>T
• NM_001285400.3:c.97-52C>T
• NM_001285401.3:c.111C>T
• NM_001285402.2:c.-7C>T
• NM_001285403.4:c.111C>T
• NM_014336.5:c.111C>TMANE SELECT
• NP_001028226.1:p.Phe37=
• NP_001272330.1:p.Phe37=
• NP_001272332.1:p.Phe37=
• NP_055151.3:p.Phe37=
• NC_000017.10:g.6337404G>A
• NM_014336.3:c.111C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs11650007

NCBI 1000 Genomes Browser:

rs11650007

Molecular consequence:

• NM_001285402.2:c.-7C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001033055.3:c.96+925C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001285399.3:c.97-22C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001285400.3:c.97-52C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033054.3:c.111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285401.3:c.111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285403.4:c.111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014336.5:c.111C>T - synonymous variant - [Sequence Ontology: SO:0001819]