ClinVar

NM_016953.4(PDE11A):c.2101T>C (p.Cys701Arg)

Genes:

PDE11A-AS1:PDE11A antisense RNA 1 [Gene - HGNC]
PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177711821 (on Assembly GRCh38)
• Chr2: 178576549 (on Assembly GRCh37)

Preferred name:

NM_016953.4(PDE11A):c.2101T>C (p.Cys701Arg)

HGVS:

• NC_000002.12:g.177711821A>G
• NG_012168.2:g.401519T>C
• NM_001077196.2:c.769T>C
• NM_001077197.2:c.1351T>C
• NM_001077358.2:c.1027T>C
• NM_016953.4:c.2101T>CMANE SELECT
• NP_001070664.1:p.Cys257Arg
• NP_001070665.1:p.Cys451Arg
• NP_001070826.1:p.Cys343Arg
• NP_058649.3:p.Cys701Arg
• NC_000002.11:g.178576549A>G
• NM_016953.3:c.2101T>C

This HGVS expression did not pass validation

Protein change:

C257R

Molecular consequence:

• NM_001077196.2:c.769T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077197.2:c.1351T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077358.2:c.1027T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016953.4:c.2101T>C - missense variant - [Sequence Ontology: SO:0001583]