ClinVar

NM_016953.4(PDE11A):c.1708T>C (p.Ser570Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177816858 (on Assembly GRCh38)
• Chr2: 178681585 (on Assembly GRCh37)

Preferred name:

NM_016953.4(PDE11A):c.1708T>C (p.Ser570Pro)

HGVS:

• NC_000002.12:g.177816858A>G
• NG_012168.2:g.296482T>C
• NM_001077196.2:c.376T>C
• NM_001077197.2:c.958T>C
• NM_001077358.2:c.634T>C
• NM_016953.3:c.1708T>C
• NM_016953.4:c.1708T>CMANE SELECT
• NP_001070664.1:p.Ser126Pro
• NP_001070665.1:p.Ser320Pro
• NP_001070826.1:p.Ser212Pro
• NP_058649.3:p.Ser570Pro
• NC_000002.11:g.178681585A>G
• NM_016953.4:c.1708T>C

This HGVS expression did not pass validation

Protein change:

S126P

Molecular consequence:

• NM_001077196.2:c.376T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077197.2:c.958T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077358.2:c.634T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016953.4:c.1708T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1