ClinVar

NM_024514.5(CYP2R1):c.1000+187T>A

Genes:

CYP2R1:cytochrome P450 family 2 subfamily R member 1 [Gene - OMIM - HGNC]
PDE3B:phosphodiesterase 3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.2

Genomic location:

• Chr11: 14879949 (on Assembly GRCh38)
• Chr11: 14901495 (on Assembly GRCh37)

Preferred name:

NM_024514.5(CYP2R1):c.1000+187T>A

HGVS:

• NC_000011.10:g.14879949A>T
• NG_007936.1:g.17257T>A
• NM_001377214.1:c.655+187T>A
• NM_001377215.1:c.655+187T>A
• NM_001377216.1:c.655+187T>A
• NM_001377217.1:c.838+187T>A
• NM_001377227.1:c.655+187T>A
• NM_024514.5:c.1000+187T>AMANE SELECT
• NC_000011.9:g.14901495A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs12796659

NCBI 1000 Genomes Browser:

rs12796659

Molecular consequence:

• NM_001377214.1:c.655+187T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377215.1:c.655+187T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377216.1:c.655+187T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377217.1:c.838+187T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377227.1:c.655+187T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_024514.5:c.1000+187T>A - intron variant - [Sequence Ontology: SO:0001627]