ClinVar

NM_000041.4(APOE):c.388T>C (p.Cys130Arg)

Gene:

APOE:apolipoprotein E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 44908684 (on Assembly GRCh38)
• Chr19: 45411941 (on Assembly GRCh37)

Preferred name:

NM_000041.4(APOE):c.388T>C (p.Cys130Arg)

Other names:

C112R; ApoE4

HGVS:

• NC_000019.10:g.44908684T>C
• NG_007084.2:g.7903T>C
• NM_000041.4:c.388T>CMANE SELECT
• NM_001302688.2:c.466T>C
• NM_001302689.2:c.388T>C
• NM_001302690.2:c.388T>C
• NM_001302691.2:c.388T>C
• NP_000032.1:p.Cys130Arg
• NP_001289617.1:p.Cys156Arg
• NP_001289618.1:p.Cys130Arg
• NP_001289619.1:p.Cys130Arg
• NP_001289620.1:p.Cys130Arg
• NC_000019.9:g.45411941T>C
• NM_000041.2:c.388T>C
• NM_000041.3:c.388T>C
• P02649:p.Cys130Arg

This HGVS expression did not pass validation

Protein change:

C130R; CYS112ARG

Links:

UniProtKB: P02649#VAR_000652; OMIM: 107741.0008; OMIM: 107741.0016; OMIM: 107741.0022; OMIM: 107741.0023; OMIM: 107741.0025; dbSNP: rs429358

NCBI 1000 Genomes Browser:

rs429358

Molecular consequence:

• NM_000041.4:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302688.2:c.466T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302689.2:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302690.2:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302691.2:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Uncertain function

Observations:

30