ClinVar

NM_001974.5(ADGRE1):c.170C>T (p.Ala57Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6896473 (on Assembly GRCh38)
• Chr19: 6896484 (on Assembly GRCh37)

Preferred name:

NM_001974.5(ADGRE1):c.170C>T (p.Ala57Val)

HGVS:

• NC_000019.10:g.6896473C>T
• NM_001256252.2:c.170C>T
• NM_001256253.2:c.170C>T
• NM_001256254.2:c.170C>T
• NM_001256255.2:c.170C>T
• NM_001974.5:c.170C>TMANE SELECT
• NP_001243181.1:p.Ala57Val
• NP_001243182.1:p.Ala57Val
• NP_001243183.1:p.Ala57Val
• NP_001243184.1:p.Ala57Val
• NP_001965.3:p.Ala57Val
• NC_000019.9:g.6896484C>T
• NM_001974.3:c.170C>T

This HGVS expression did not pass validation

Protein change:

A57V

Molecular consequence:

• NM_001256252.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256253.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256254.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256255.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001974.5:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]