ClinVar

NM_032571.5(ADGRE3):c.824G>C (p.Gly275Ala)

Gene:

ADGRE3:adhesion G protein-coupled receptor E3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14647239 (on Assembly GRCh38)
• Chr19: 14758051 (on Assembly GRCh37)

Preferred name:

NM_032571.5(ADGRE3):c.824G>C (p.Gly275Ala)

HGVS:

• NC_000019.10:g.14647239C>G
• NM_001289158.2:c.668G>C
• NM_001289159.2:c.446G>C
• NM_032571.5:c.824G>CMANE SELECT
• NP_001276087.1:p.Gly223Ala
• NP_001276088.1:p.Gly149Ala
• NP_115960.2:p.Gly275Ala
• NC_000019.9:g.14758051C>G
• NM_032571.3:c.824G>C

This HGVS expression did not pass validation

Protein change:

G149A

Molecular consequence:

• NM_001289158.2:c.668G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289159.2:c.446G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_032571.5:c.824G>C - missense variant - [Sequence Ontology: SO:0001583]