ClinVar

NM_000314.8(PTEN):c.66C>T (p.Asp22=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87864535 (on Assembly GRCh38)
• Chr10: 89624292 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.66C>T (p.Asp22=)

HGVS:

• NC_000010.11:g.87864535C>T
• NG_007466.2:g.6097C>T
• NG_033079.1:g.3903G>A
• NM_000314.6:c.66C>T
• NM_000314.8:c.66C>TMANE SELECT
• NM_001304717.5:c.585C>T
• NM_001304718.2:c.-640C>T
• NP_000305.3:p.Asp22=
• NP_001291646.4:p.Asp195=
• LRG_311t1:c.66C>T
• LRG_1087:g.3903G>A
• LRG_311:g.6097C>T
• NC_000010.10:g.89624292C>T
• NM_000314.4:c.66C>T
• p.D22D

This HGVS expression did not pass validation

Links:

dbSNP: rs786201335

NCBI 1000 Genomes Browser:

rs786201335

Molecular consequence:

• NM_001304718.2:c.-640C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000314.8:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304717.5:c.585C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2