ClinVar

NM_032571.5(ADGRE3):c.1096G>A (p.Val366Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14641571 (on Assembly GRCh38)
• Chr19: 14752383 (on Assembly GRCh37)

Preferred name:

NM_032571.5(ADGRE3):c.1096G>A (p.Val366Ile)

HGVS:

• NC_000019.10:g.14641571C>T
• NM_001289158.2:c.940G>A
• NM_001289159.2:c.718G>A
• NM_032571.5:c.1096G>AMANE SELECT
• NP_001276087.1:p.Val314Ile
• NP_001276088.1:p.Val240Ile
• NP_115960.2:p.Val366Ile
• NC_000019.9:g.14752383C>T
• NM_032571.3:c.1096G>A

This HGVS expression did not pass validation

Protein change:

V240I

Molecular consequence:

• NM_001289158.2:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289159.2:c.718G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032571.5:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]