ClinVar

NM_000314.8(PTEN):c.-511G>A

Gene:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87863959 (on Assembly GRCh38)
• Chr10: 89623716 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.-511G>A

HGVS:

• NC_000010.11:g.87863959G>A
• NG_007466.2:g.5522G>A
• NG_033079.1:g.4479C>T
• NM_000314.8:c.-511G>AMANE SELECT
• NM_001304717.5:c.10G>A
• NM_001304718.2:c.-1215G>A
• NP_001291646.4:p.Gly4Arg
• LRG_1087:g.4479C>T
• LRG_311:g.5522G>A
• NC_000010.10:g.89623716G>A
• NM_001304717.5:c.10G>A

This HGVS expression did not pass validation

Protein change:

G4R

Links:

dbSNP: rs12573787

NCBI 1000 Genomes Browser:

rs12573787

Molecular consequence:

• NM_000314.8:c.-511G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304718.2:c.-1215G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304717.5:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]