ClinVar

NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87957955 (on Assembly GRCh38)
• Chr10: 89717712 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)

Other names:

p.P246L:CCG>CTG; NM_000314.6(PTEN):c.737C>T(p.Pro246Leu)

HGVS:

• NC_000010.11:g.87957955C>T
• NG_007466.2:g.99517C>T
• NM_000314.8:c.737C>TMANE SELECT
• NM_001304717.5:c.1256C>T
• NM_001304718.2:c.146C>T
• NP_000305.3:p.Pro246Leu
• NP_001291646.4:p.Pro419Leu
• NP_001291647.1:p.Pro49Leu
• LRG_311t1:c.737C>T
• LRG_311:g.99517C>T
• NC_000010.10:g.89717712C>T
• NM_000314.4:c.737C>T
• NM_000314.5:c.737C>T
• NM_000314.6:c.737C>T
• P60484:p.Pro246Leu
• p.P246L

This HGVS expression did not pass validation

Protein change:

P246L

Links:

UniProtKB: P60484#VAR_008740; dbSNP: rs587782350

NCBI 1000 Genomes Browser:

rs587782350

Molecular consequence:

• NM_000314.8:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304717.5:c.1256C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304718.2:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1