ClinVar

NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177727728 (on Assembly GRCh38)
• Chr2: 178592456 (on Assembly GRCh37)

Preferred name:

NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)

HGVS:

• NC_000002.12:g.177727728T>C
• NG_012168.2:g.385612A>G
• NM_001077196.2:c.641A>G
• NM_001077197.2:c.1223A>G
• NM_001077358.2:c.899A>G
• NM_016953.4:c.1973A>GMANE SELECT
• NP_001070664.1:p.Tyr214Cys
• NP_001070665.1:p.Tyr408Cys
• NP_001070826.1:p.Tyr300Cys
• NP_058649.3:p.Tyr658Cys
• NC_000002.11:g.178592456T>C

This HGVS expression did not pass validation

Protein change:

Y214C

Links:

dbSNP: rs77597060

NCBI 1000 Genomes Browser:

rs77597060

Molecular consequence:

• NM_001077196.2:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077197.2:c.1223A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077358.2:c.899A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016953.4:c.1973A>G - missense variant - [Sequence Ontology: SO:0001583]