ClinVar

NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87957915 (on Assembly GRCh38)
• Chr10: 89717672 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)

Other names:

p.R233*:CGA>TGA

HGVS:

• NC_000010.11:g.87957915C>T
• NG_007466.2:g.99477C>T
• NM_000314.8:c.697C>TMANE SELECT
• NM_001304717.5:c.1216C>T
• NM_001304718.2:c.106C>T
• NP_000305.3:p.Arg233Ter
• NP_000305.3:p.Arg233Ter
• NP_001291646.4:p.Arg406Ter
• NP_001291647.1:p.Arg36Ter
• LRG_311t1:c.697C>T
• LRG_311:g.99477C>T
• NC_000010.10:g.89717672C>T
• NM_000314.4:c.697C>T
• NM_000314.6:c.697C>T
• NM_000314.7:c.697C>T
• p.Arg233*
• p.R233*

This HGVS expression did not pass validation

Protein change:

R233*; ARG233TER

Links:

OMIM: 601728.0002; dbSNP: rs121909219

NCBI 1000 Genomes Browser:

rs121909219

Molecular consequence:

• NM_000314.8:c.697C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001304717.5:c.1216C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001304718.2:c.106C>T - nonsense - [Sequence Ontology: SO:0001587]