ClinVar

NM_000922.4(PDE3B):c.476C>T (p.Ala159Val)

Gene:

PDE3B:phosphodiesterase 3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.2

Genomic location:

• Chr11: 14644551 (on Assembly GRCh38)
• Chr11: 14666097 (on Assembly GRCh37)

Preferred name:

NM_000922.4(PDE3B):c.476C>T (p.Ala159Val)

HGVS:

• NC_000011.10:g.14644551C>T
• NM_000922.4:c.476C>TMANE SELECT
• NM_001363569.2:c.476C>T
• NM_001363570.2:c.476C>T
• NP_000913.2:p.Ala159Val
• NP_001350498.1:p.Ala159Val
• NP_001350499.1:p.Ala159Val
• NC_000011.9:g.14666097C>T

This HGVS expression did not pass validation

Protein change:

A159V

Links:

dbSNP: rs1590023524

NCBI 1000 Genomes Browser:

rs1590023524

Molecular consequence:

• NM_000922.4:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363569.2:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363570.2:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]