ClinGen Classification:
Classification
Likely Pathogenic
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960894del , CM000672.2:g.87960894del | GRCh38 |
| NC_000010.10:g.89720651del , CM000672.1:g.89720651del | GRCh37 |
| NC_000010.9:g.89710631del | NCBI36 |
| NG_007466.2:g.102456del , LRG_311:g.102456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.895del | ||
| ENST00000710265.1:c.802del | ||
| ENST00000472832.3:c.802del | ||
| ENST00000688158.2:n.1537del | ||
| ENST00000688922.2:c.*632del | ||
| ENST00000700021.1:c.757del | ||
| ENST00000700022.1:c.*141del | ||
| ENST00000700023.1:n.1960del | ||
| ENST00000700024.1:n.2194del | ||
| ENST00000700025.1:n.1571del | ||
| ENST00000700026.1:n.439del | ||
| ENST00000700029.1:c.729del | ||
| ENST00000706954.1:c.802del | ||
| ENST00000706955.1:c.*837del | ||
| ENST00000686459.1:c.*388del | ||
| ENST00000688158.1:c.*913del | ||
| ENST00000688308.1:c.802del | ||
| ENST00000688922.1:c.723del | ||
| ENST00000693560.1:c.1321del | ||
| ENST00000371953.8:c.802del | ||
| ENST00000371953.7:c.802del | ||
| ENST00000472832.2:c.229del | ||
| NM_000314.5:c.802del | ||
| NM_000314.6:c.802del | ||
| NM_001304717.2:c.1321del | ||
| NM_001304718.1:c.211del | ||
| XM_006717926.2:c.757del | ||
| XM_011539981.1:c.802del | ||
| XM_011539982.1:c.706del | ||
| XR_945791.1:n.1372del | ||
| NM_000314.7:c.802del | ||
| NM_001304717.5:c.1321del | ||
| NM_001304718.2:c.211del | ||
| NM_000314.8:c.802del |