ClinVar

NM_000314.8(PTEN):c.-840C>T

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: 87863630 (on Assembly GRCh38)
• Chr10: 89623387 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.-840C>T

HGVS:

• NC_000010.11:g.87863630C>T
• NG_007466.2:g.5193C>T
• NG_033079.1:g.4808G>A
• NM_000314.8:c.-840C>TMANE SELECT
• NM_001304717.5:c.-320C>T
• NM_001304718.2:c.-1544C>T
• LRG_311t1:c.-839C>T
• LRG_1087:g.4808G>A
• LRG_311:g.5193C>T
• NC_000010.10:g.89623387C>T
• NM_000314.4:c.-839C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs587781920

NCBI 1000 Genomes Browser:

rs587781920

Molecular consequence:

• NM_000314.8:c.-840C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304717.5:c.-320C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304718.2:c.-1544C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]