ClinVar

NM_000041.4(APOE):c.120C>T (p.Ser40=)

Gene:

APOE:apolipoprotein E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 44907836 (on Assembly GRCh38)
• Chr19: 45411093 (on Assembly GRCh37)

Preferred name:

NM_000041.4(APOE):c.120C>T (p.Ser40=)

HGVS:

• NC_000019.10:g.44907836C>T
• NG_007084.2:g.7055C>T
• NM_000041.4:c.120C>TMANE SELECT
• NM_001302688.2:c.198C>T
• NM_001302689.2:c.120C>T
• NM_001302690.2:c.120C>T
• NM_001302691.2:c.120C>T
• NP_000032.1:p.Ser40=
• NP_001289617.1:p.Ser66=
• NP_001289618.1:p.Ser40=
• NP_001289619.1:p.Ser40=
• NP_001289620.1:p.Ser40=
• NC_000019.9:g.45411093C>T
• NM_000041.2:c.120C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373020952

NCBI 1000 Genomes Browser:

rs373020952

Molecular consequence:

• NM_000041.4:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302688.2:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302689.2:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302690.2:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302691.2:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1