ClinVar

NM_001040664.3(PPAN-P2RY11):c.2074G>A (p.Val692Met)

Genes:

PPAN-P2RY11:PPAN-P2RY11 readthrough [Gene - HGNC]
P2RY11:purinergic receptor P2Y11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10114427 (on Assembly GRCh38)
• Chr19: 10225103 (on Assembly GRCh37)

Preferred name:

NM_001040664.3(PPAN-P2RY11):c.2074G>A (p.Val692Met)

HGVS:

• NC_000019.10:g.10114427G>A
• NG_047007.1:g.7907G>A
• NG_051197.1:g.10498C>T
• NM_001040664.3:c.2074G>A
• NM_001198690.2:c.*573G>A
• NM_002566.5:c.814G>AMANE SELECT
• NP_001035754.1:p.Val692Met
• NP_002557.2:p.Val272Met
• NC_000019.9:g.10225103G>A
• NM_001040664.2:c.2074G>A

This HGVS expression did not pass validation

Protein change:

V272M

Molecular consequence:

• NM_001198690.2:c.*573G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001040664.3:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002566.5:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]