ClinVar

NM_002566.5(P2RY11):c.258C>T (p.Ala86=)

Genes:

PPAN-P2RY11:PPAN-P2RY11 readthrough [Gene - HGNC]
LOC113939967:Sharpr-MPRA regulatory region 3609 [Gene]
P2RY11:purinergic receptor P2Y11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10113871 (on Assembly GRCh38)
• Chr19: 10224547 (on Assembly GRCh37)

Preferred name:

NM_002566.5(P2RY11):c.258C>T (p.Ala86=)

HGVS:

• NC_000019.10:g.10113871C>T
• NG_047007.1:g.7351C>T
• NG_051197.1:g.11054G>A
• NG_051640.1:g.12649C>T
• NG_063749.1:g.299C>T
• NM_001040664.3:c.1518C>T
• NM_001198690.2:c.*17C>T
• NM_002566.5:c.258C>TMANE SELECT
• NP_001035754.1:p.Ala506=
• NP_002557.2:p.Ala86=
• NC_000019.9:g.10224547C>T
• NM_002566.4:c.258C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs145464312

NCBI 1000 Genomes Browser:

rs145464312

Molecular consequence:

• NM_001198690.2:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001040664.3:c.1518C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002566.5:c.258C>T - synonymous variant - [Sequence Ontology: SO:0001819]