ClinVar

NM_000314.8(PTEN):c.-819A>G

Genes:

LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87863651 (on Assembly GRCh38)
• Chr10: 89623408 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.-819A>G

HGVS:

• NC_000010.11:g.87863651A>G
• NG_007466.2:g.5214A>G
• NG_033079.1:g.4787T>C
• NM_000314.6:c.-818A>G
• NM_000314.8:c.-819A>GMANE SELECT
• NM_001304717.5:c.-299A>G
• NM_001304718.2:c.-1523A>G
• LRG_311t1:c.-818A>G
• LRG_1087:g.4787T>C
• LRG_311:g.5214A>G
• NC_000010.10:g.89623408A>G
• NM_000314.4:c.-818A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs931643553

NCBI 1000 Genomes Browser:

rs931643553

Molecular consequence:

• NM_000314.8:c.-819A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304717.5:c.-299A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304718.2:c.-1523A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]