ClinVar

NM_000314.6(PTEN):c.-975G>C

Genes:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87863494 (on Assembly GRCh38)
• Chr10: 89623251 (on Assembly GRCh37)

Preferred name:

NM_000314.6(PTEN):c.-975G>C

HGVS:

• NC_000010.11:g.87863494G>C
• NG_007466.2:g.5057G>C
• NG_033079.1:g.4944C>G
• NG_183718.1:g.215G>C
• NM_000314.4:c.-975G>C
• NM_000314.6:c.-975G>C
• NM_001126049.2:c.-1007C>GMANE SELECT
• NM_001304717.4:c.-456G>C
• NM_001304718.1:c.-1680G>C
• LRG_1087t1:c.-1007C>G
• LRG_311t1:c.-975G>C
• LRG_1087:g.4944C>G
• LRG_311:g.5057G>C
• NC_000010.10:g.89623251G>C
• c.-976G>C[hg19]

This HGVS expression did not pass validation

Links:

dbSNP: rs587780001

NCBI 1000 Genomes Browser:

rs587780001

Molecular consequence:

• NM_001126049.2:c.-1007C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]