ClinVar

NM_001974.5(ADGRE1):c.2382-4C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 6937239 (on Assembly GRCh38)
• Chr19: 6937250 (on Assembly GRCh37)

Preferred name:

NM_001974.5(ADGRE1):c.2382-4C>T

HGVS:

• NC_000019.10:g.6937239C>T
• NM_001256252.2:c.2325-4C>T
• NM_001256253.2:c.2187-4C>T
• NM_001256254.2:c.1959-4C>T
• NM_001256255.2:c.1851-4C>T
• NM_001974.5:c.2382-4C>TMANE SELECT
• NC_000019.9:g.6937250C>T
• NM_001256253.1:c.2187-4C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148958063

NCBI 1000 Genomes Browser:

rs148958063

Molecular consequence:

• NM_001256252.2:c.2325-4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256253.2:c.2187-4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256254.2:c.1959-4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256255.2:c.1851-4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001974.5:c.2382-4C>T - intron variant - [Sequence Ontology: SO:0001627]