ClinVar

NM_001198690.2(PPAN-P2RY11):c.1520C>T (p.Ser507Phe)

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: 10113811 (on Assembly GRCh38)
• Chr19: 10224487 (on Assembly GRCh37)

Preferred name:

NM_001198690.2(PPAN-P2RY11):c.1520C>T (p.Ser507Phe)

HGVS:

• NC_000019.10:g.10113811C>T
• NG_047007.1:g.7291C>T
• NG_051197.1:g.11114G>A
• NG_051640.1:g.12589C>T
• NG_063749.1:g.239C>T
• NM_001040664.3:c.1458C>T
• NM_001198690.2:c.1520C>T
• NM_002566.5:c.198C>TMANE SELECT
• NP_001035754.1:p.Val486=
• NP_001185619.1:p.Ser507Phe
• NP_002557.2:p.Val66=
• NC_000019.9:g.10224487C>T
• NM_001198690.1:c.1520C>T

This HGVS expression did not pass validation

Protein change:

S507F

Molecular consequence:

• NM_001198690.2:c.1520C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040664.3:c.1458C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002566.5:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]