ClinVar

NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)

Gene:

SCARB2:scavenger receptor class B member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.1

Genomic location:

• Chr4: 76163238 (on Assembly GRCh38)
• Chr4: 77084391 (on Assembly GRCh37)

Preferred name:

NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)

Other names:

p.G462E:GGA>GAA

HGVS:

• NC_000004.12:g.76163238C>T
• NG_012054.1:g.55645G>A
• NM_001204255.2:c.956G>A
• NM_005506.4:c.1385G>AMANE SELECT
• NP_001191184.1:p.Gly319Glu
• NP_005497.1:p.Gly462Glu
• NC_000004.11:g.77084391C>T
• NM_005506.3:c.1385G>A

This HGVS expression did not pass validation

Protein change:

G319E

Links:

dbSNP: rs117157204

NCBI 1000 Genomes Browser:

rs117157204

Molecular consequence:

• NM_001204255.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005506.4:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]