ClinVar

NM_000041.2(APOE):c.526C>T (p.Arg176Cys)

Gene:

APOE:apolipoprotein E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 44908822 (on Assembly GRCh38)
• Chr19: 45412079 (on Assembly GRCh37)

Preferred name:

NM_000041.2(APOE):c.526C>T (p.Arg176Cys)

Other names:

R158C; R148C

HGVS:

• NC_000019.10:g.44908822C>T
• NG_007084.2:g.8041C>T
• NM_000041.4:c.526C>TMANE SELECT
• NM_001302688.2:c.604C>T
• NM_001302689.2:c.526C>T
• NM_001302690.1:c.526C>T
• NM_001302691.2:c.526C>T
• NP_000032.1:p.Arg176Cys
• NP_001289617.1:p.Arg202Cys
• NP_001289618.1:p.Arg176Cys
• NP_001289619.1:p.Arg176Cys
• NP_001289620.1:p.Arg176Cys
• NC_000019.9:g.45412079C>T
• NM_000041.2:c.526C>T
• NM_000041.3:c.526C>T
• P02649:p.Arg176Cys

This HGVS expression did not pass validation

Protein change:

R176C; ARG148CYS

Links:

PharmGKB: 1183492249; PharmGKB: 1183492249PA448500; PharmGKB Clinical Annotation: 1183492249; UniProtKB: P02649#VAR_000664; OMIM: 107741.0001; OMIM: 107741.0009; OMIM: 107741.0019; OMIM: 107741.0021; dbSNP: rs7412

NCBI 1000 Genomes Browser:

rs7412

Molecular consequence:

• NM_000041.4:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302688.2:c.604C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302689.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302690.1:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302691.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1