ClinVar

NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87952170 (on Assembly GRCh38)
• Chr10: 89711927 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)

Other names:

NM_000314.6(PTEN):c.545T>C

HGVS:

• NC_000010.11:g.87952170T>C
• NG_007466.2:g.93732T>C
• NM_000314.8:c.545T>CMANE SELECT
• NM_001304717.5:c.1064T>C
• NM_001304718.2:c.-47T>C
• NP_000305.3:p.Leu182Ser
• NP_001291646.4:p.Leu355Ser
• LRG_311t1:c.545T>C
• LRG_311:g.93732T>C
• NC_000010.10:g.89711927T>C
• NM_000314.1:c.545T>C
• NM_000314.4:c.545T>C

This HGVS expression did not pass validation

Protein change:

L182S

Links:

dbSNP: rs794729664

NCBI 1000 Genomes Browser:

rs794729664

Molecular consequence:

• NM_001304718.2:c.-47T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000314.8:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304717.5:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1