ClinVar

NM_000314.8(PTEN):c.738G>A (p.Pro246=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87957956 (on Assembly GRCh38)
• Chr10: 89717713 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.738G>A (p.Pro246=)

HGVS:

• NC_000010.11:g.87957956G>A
• NG_007466.2:g.99518G>A
• NM_000314.8:c.738G>AMANE SELECT
• NM_001304717.5:c.1257G>A
• NM_001304718.2:c.147G>A
• NP_000305.3:p.Pro246=
• NP_001291646.4:p.Pro419=
• NP_001291647.1:p.Pro49=
• LRG_311t1:c.738G>A
• LRG_311:g.99518G>A
• NC_000010.10:g.89717713G>A
• NM_000314.4:c.738G>A
• NM_000314.6:c.738G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs774364894

NCBI 1000 Genomes Browser:

rs774364894

Molecular consequence:

• NM_000314.8:c.738G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304717.5:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304718.2:c.147G>A - synonymous variant - [Sequence Ontology: SO:0001819]