ClinVar

NM_000314.4(PTEN):c.-1305T>A

Genes:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87863164 (on Assembly GRCh38)
• Chr10: 89622921 (on Assembly GRCh37)

Preferred name:

NM_000314.4(PTEN):c.-1305T>A

HGVS:

• NC_000010.11:g.87863164T>A
• NG_007466.2:g.4727T>A
• NG_033079.1:g.5274A>T
• NM_001126049.2:c.-677A>TMANE SELECT
• LRG_1087t1:c.-677A>T
• LRG_311t1:c.-1305T>A
• LRG_1087:g.5274A>T
• LRG_311:g.4727T>A
• NC_000010.10:g.89622921T>A
• NM_000314.4:c.-1305T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1554889777

NCBI 1000 Genomes Browser:

rs1554889777

Molecular consequence:

• NM_001126049.2:c.-677A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]