ClinVar

NM_032571.5(ADGRE3):c.1892A>T (p.Lys631Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14625520 (on Assembly GRCh38)
• Chr19: 14736332 (on Assembly GRCh37)

Preferred name:

NM_032571.5(ADGRE3):c.1892A>T (p.Lys631Met)

HGVS:

• NC_000019.10:g.14625520T>A
• NM_001289158.2:c.1736A>T
• NM_001289159.2:c.1514A>T
• NM_032571.5:c.1892A>TMANE SELECT
• NP_001276087.1:p.Lys579Met
• NP_001276088.1:p.Lys505Met
• NP_115960.2:p.Lys631Met
• NC_000019.9:g.14736332T>A
• NM_032571.3:c.1892A>T

This HGVS expression did not pass validation

Protein change:

K505M

Molecular consequence:

• NM_001289158.2:c.1736A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289159.2:c.1514A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032571.5:c.1892A>T - missense variant - [Sequence Ontology: SO:0001583]