ClinVar

NM_016953.4(PDE11A):c.1976G>A (p.Arg659Gln)

Gene:

PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177727725 (on Assembly GRCh38)
• Chr2: 178592453 (on Assembly GRCh37)

Preferred name:

NM_016953.4(PDE11A):c.1976G>A (p.Arg659Gln)

HGVS:

• NC_000002.12:g.177727725C>T
• NG_012168.2:g.385615G>A
• NM_001077196.2:c.644G>A
• NM_001077197.2:c.1226G>A
• NM_001077358.2:c.902G>A
• NM_016953.4:c.1976G>AMANE SELECT
• NP_001070664.1:p.Arg215Gln
• NP_001070665.1:p.Arg409Gln
• NP_001070826.1:p.Arg301Gln
• NP_058649.3:p.Arg659Gln
• NC_000002.11:g.178592453C>T
• NM_016953.3:c.1976G>A

This HGVS expression did not pass validation

Protein change:

R215Q

Molecular consequence:

• NM_001077196.2:c.644G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077197.2:c.1226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077358.2:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016953.4:c.1976G>A - missense variant - [Sequence Ontology: SO:0001583]