ClinVar

NM_001974.5(ADGRE1):c.2289+47A>T

Gene:

ADGRE1:adhesion G protein-coupled receptor E1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 6928258 (on Assembly GRCh38)
• Chr19: 6928269 (on Assembly GRCh37)

Preferred name:

NM_001974.5(ADGRE1):c.2289+47A>T

HGVS:

• NC_000019.10:g.6928258A>T
• NM_001256252.2:c.2180A>T
• NM_001256253.2:c.2094+47A>T
• NM_001256254.2:c.1866+47A>T
• NM_001256255.2:c.1758+47A>T
• NM_001974.5:c.2289+47A>TMANE SELECT
• NP_001243181.1:p.Glu727Val
• NC_000019.9:g.6928269A>T

This HGVS expression did not pass validation

Protein change:

E727V

Molecular consequence:

• NM_001256253.2:c.2094+47A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256254.2:c.1866+47A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256255.2:c.1758+47A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001974.5:c.2289+47A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256252.2:c.2180A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1