ClinVar

NM_021222.3(PRUNE1):c.932C>T (p.Thr311Met)

Gene:

PRUNE1:prune exopolyphosphatase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 151028943 (on Assembly GRCh38)
• Chr1: 151001419 (on Assembly GRCh37)

Preferred name:

NM_021222.3(PRUNE1):c.932C>T (p.Thr311Met)

HGVS:

• NC_000001.11:g.151028943C>T
• NG_052875.1:g.25553C>T
• NM_001303229.2:c.386C>T
• NM_001303242.2:c.774+1616C>T
• NM_001303243.2:c.329C>T
• NM_021222.3:c.932C>TMANE SELECT
• NP_001290158.1:p.Thr129Met
• NP_001290172.1:p.Thr110Met
• NP_067045.1:p.Thr311Met
• NC_000001.10:g.151001419C>T
• NM_021222.1:c.932C>T
• NR_130131.2:n.569C>T

This HGVS expression did not pass validation

Protein change:

T110M

Molecular consequence:

• NM_001303242.2:c.774+1616C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001303229.2:c.386C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303243.2:c.329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021222.3:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_130131.2:n.569C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]