ClinVar

NM_000314.8(PTEN):c.165-1G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87925512 (on Assembly GRCh38)
• Chr10: 89685269 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.165-1G>C

HGVS:

• NC_000010.11:g.87925512G>C
• NG_007466.2:g.67074G>C
• NM_000314.8:c.165-1G>CMANE SELECT
• NM_001304717.5:c.685-1G>C
• NM_001304718.2:c.-541-5534G>C
• LRG_311t1:c.165-1G>C
• LRG_311:g.67074G>C
• NC_000010.10:g.89685269G>C
• NC_000010.10:g.89685269G>C
• NM_000314.4:c.165-1G>C
• NM_000314.6:c.165-1G>C
• NM_000314.7(PTEN):c.165-1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs786203847

NCBI 1000 Genomes Browser:

rs786203847

Molecular consequence:

• NM_001304718.2:c.-541-5534G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000314.8:c.165-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001304717.5:c.685-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]