ClinVar

NM_144498.4(OSBPL2):c.1021A>G (p.Ser341Gly)

Gene:

OSBPL2:oxysterol binding protein like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 62286607 (on Assembly GRCh38)
• Chr20: 60861663 (on Assembly GRCh37)

Preferred name:

NM_144498.4(OSBPL2):c.1021A>G (p.Ser341Gly)

HGVS:

• NC_000020.11:g.62286607A>G
• NG_042164.1:g.53123A>G
• NM_001278649.3:c.745A>G
• NM_001363878.2:c.745A>G
• NM_014835.5:c.985A>G
• NM_144498.4:c.1021A>GMANE SELECT
• NP_001265578.1:p.Ser249Gly
• NP_001350807.1:p.Ser249Gly
• NP_055650.1:p.Ser329Gly
• NP_653081.1:p.Ser341Gly
• NC_000020.10:g.60861663A>G
• NM_144498.2:c.1021A>G

This HGVS expression did not pass validation

Protein change:

S249G

Links:

dbSNP: rs759698256

NCBI 1000 Genomes Browser:

rs759698256

Molecular consequence:

• NM_001278649.3:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363878.2:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014835.5:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_144498.4:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]