ClinVar

NM_016953.4(PDE11A):c.2725C>T (p.His909Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177629484 (on Assembly GRCh38)
• Chr2: 178494212 (on Assembly GRCh37)

Preferred name:

NM_016953.4(PDE11A):c.2725C>T (p.His909Tyr)

HGVS:

• NC_000002.12:g.177629484G>A
• NG_012168.2:g.483856C>T
• NM_001077196.2:c.1393C>T
• NM_001077197.2:c.1975C>T
• NM_001077358.2:c.1651C>T
• NM_016953.4:c.2725C>TMANE SELECT
• NP_001070664.1:p.His465Tyr
• NP_001070665.1:p.His659Tyr
• NP_001070826.1:p.His551Tyr
• NP_058649.3:p.His909Tyr
• NC_000002.11:g.178494212G>A
• NM_016953.3:c.2725C>T

This HGVS expression did not pass validation

Protein change:

H465Y

Molecular consequence:

• NM_001077196.2:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077197.2:c.1975C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077358.2:c.1651C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016953.4:c.2725C>T - missense variant - [Sequence Ontology: SO:0001583]