ClinVar

NM_000041.4(APOE):c.108C>G (p.Thr36=)

Gene:

APOE:apolipoprotein E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 44907824 (on Assembly GRCh38)
• Chr19: 45411081 (on Assembly GRCh37)

Preferred name:

NM_000041.4(APOE):c.108C>G (p.Thr36=)

HGVS:

• NC_000019.10:g.44907824C>G
• NG_007084.2:g.7043C>G
• NM_000041.4:c.108C>GMANE SELECT
• NM_001302688.2:c.186C>G
• NM_001302689.2:c.108C>G
• NM_001302690.2:c.108C>G
• NM_001302691.2:c.108C>G
• NP_000032.1:p.Thr36=
• NP_001289617.1:p.Thr62=
• NP_001289618.1:p.Thr36=
• NP_001289619.1:p.Thr36=
• NP_001289620.1:p.Thr36=
• NC_000019.9:g.45411081C>G
• NM_000041.3:c.108C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs755434388

NCBI 1000 Genomes Browser:

rs755434388

Molecular consequence:

• NM_000041.4:c.108C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302688.2:c.186C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302689.2:c.108C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302690.2:c.108C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302691.2:c.108C>G - synonymous variant - [Sequence Ontology: SO:0001819]