ClinVar

NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87965431 (on Assembly GRCh38)
• Chr10: 89725188 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)

Other names:

p.P391S:CCT>TCT; NM_000314.6(PTEN):c.1171C>T(p.Pro391Ser)

HGVS:

• NC_000010.11:g.87965431C>T
• NG_007466.2:g.106993C>T
• NM_000314.8:c.1171C>TMANE SELECT
• NM_001304717.5:c.1690C>T
• NM_001304718.2:c.580C>T
• NP_000305.3:p.Pro391Ser
• NP_001291646.4:p.Pro564Ser
• NP_001291647.1:p.Pro194Ser
• LRG_311t1:c.1171C>T
• LRG_311:g.106993C>T
• NC_000010.10:g.89725188C>T
• NM_000314.4:c.1171C>T
• NM_000314.6(PTEN):c.1171C>T
• p.P391S
• p.Pro391Ser

This HGVS expression did not pass validation

Protein change:

P194S

Links:

dbSNP: rs786203911

NCBI 1000 Genomes Browser:

rs786203911

Molecular consequence:

• NM_000314.8:c.1171C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304717.5:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304718.2:c.580C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1