ClinVar

NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87960922 (on Assembly GRCh38)
• Chr10: 89720679 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)

Other names:

NM_000314.8(PTEN):c.830C>T; p.Thr277Ile

HGVS:

• NC_000010.11:g.87960922C>T
• NG_007466.2:g.102484C>T
• NM_000314.8:c.830C>TMANE SELECT
• NM_001304717.5:c.1349C>T
• NM_001304718.2:c.239C>T
• NP_000305.3:p.Thr277Ile
• NP_001291646.4:p.Thr450Ile
• NP_001291647.1:p.Thr80Ile
• LRG_311t1:c.830C>T
• LRG_311:g.102484C>T
• NC_000010.10:g.89720679C>T
• NC_000010.10:g.89720679C>T
• NM_000314.4:c.830C>T
• p.T277I

This HGVS expression did not pass validation

Protein change:

T277I

Links:

dbSNP: rs398123329

NCBI 1000 Genomes Browser:

rs398123329

Molecular consequence:

• NM_000314.8:c.830C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304717.5:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304718.2:c.239C>T - missense variant - [Sequence Ontology: SO:0001583]