ClinVar

NM_001126049.2(KLLN):c.-898G>A

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: 87863385 (on Assembly GRCh38)
• Chr10: 89623142 (on Assembly GRCh37)

Preferred name:

NM_001126049.2(KLLN):c.-898G>A

Other names:

NM_000314.6(PTEN):c.-1084C>T

HGVS:

• NC_000010.11:g.87863385C>T
• NG_007466.2:g.4948C>T
• NG_033079.1:g.5053G>A
• NG_183718.1:g.106C>T
• NM_000314.8:c.-1085C>TMANE SELECT
• NM_001126049.2:c.-898G>AMANE SELECT
• LRG_1087t1:c.-898G>A
• LRG_311t1:c.-1084C>T
• LRG_1087:g.5053G>A
• LRG_311:g.4948C>T
• NC_000010.10:g.89623142C>T
• NM_000314.4:c.-1084C>T
• c.-1085C>T[hg19]

This HGVS expression did not pass validation

Links:

dbSNP: rs538728843

NCBI 1000 Genomes Browser:

rs538728843

Molecular consequence:

• NM_001126049.2:c.-898G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000314.8:c.-1085C>T - upstream transcript variant - [Sequence Ontology: SO:0001986]