ClinVar

NM_000314.8(PTEN):c.-752G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87863718 (on Assembly GRCh38)
• Chr10: 89623475 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.-752G>A

HGVS:

• NC_000010.11:g.87863718G>A
• NG_007466.2:g.5281G>A
• NG_033079.1:g.4720C>T
• NM_000314.8:c.-752G>AMANE SELECT
• NM_001304717.5:c.-232G>A
• NM_001304718.2:c.-1456G>A
• LRG_311t1:c.-751G>A
• LRG_1087:g.4720C>T
• LRG_311:g.5281G>A
• NC_000010.10:g.89623475G>A
• NM_000314.4:c.-751G>A
• NM_000314.6:c.-751G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1256922808

NCBI 1000 Genomes Browser:

rs1256922808

Molecular consequence:

• NM_000314.8:c.-752G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304717.5:c.-232G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304718.2:c.-1456G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]