ClinVar

NM_016953.4(PDE11A):c.2531G>C (p.Arg844Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177669524 (on Assembly GRCh38)
• Chr2: 178534252 (on Assembly GRCh37)

Preferred name:

NM_016953.4(PDE11A):c.2531G>C (p.Arg844Pro)

HGVS:

• NC_000002.12:g.177669524C>G
• NG_012168.2:g.443816G>C
• NM_001077196.2:c.1199G>C
• NM_001077197.2:c.1781G>C
• NM_001077358.2:c.1457G>C
• NM_016953.4:c.2531G>CMANE SELECT
• NP_001070664.1:p.Arg400Pro
• NP_001070665.1:p.Arg594Pro
• NP_001070826.1:p.Arg486Pro
• NP_058649.3:p.Arg844Pro
• NC_000002.11:g.178534252C>G
• NM_016953.3:c.2531G>C

This HGVS expression did not pass validation

Protein change:

R400P

Molecular consequence:

• NM_001077196.2:c.1199G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077197.2:c.1781G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077358.2:c.1457G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016953.4:c.2531G>C - missense variant - [Sequence Ontology: SO:0001583]