ClinVar

NM_001974.5(ADGRE1):c.1290G>A (p.Thr430=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 6913820 (on Assembly GRCh38)
• Chr19: 6913831 (on Assembly GRCh37)

Preferred name:

NM_001974.5(ADGRE1):c.1290G>A (p.Thr430=)

HGVS:

• NC_000019.10:g.6913820G>A
• NM_001256252.2:c.1134G>A
• NM_001256253.2:c.1290G>A
• NM_001256254.2:c.867G>A
• NM_001256255.2:c.759G>A
• NM_001974.4:c.1290G>A
• NM_001974.5:c.1290G>AMANE SELECT
• NP_001243181.1:p.Thr378=
• NP_001243182.1:p.Thr430=
• NP_001243183.1:p.Thr289=
• NP_001243184.1:p.Thr253=
• NP_001965.3:p.Thr430=
• NC_000019.9:g.6913831G>A
• NM_001256253.1:c.1290G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs141986863

NCBI 1000 Genomes Browser:

rs141986863

Molecular consequence:

• NM_001256252.2:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256253.2:c.1290G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256254.2:c.867G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256255.2:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001974.5:c.1290G>A - synonymous variant - [Sequence Ontology: SO:0001819]