NM_000314.8(PTEN):c.732_781del (p.Gln245fs) AND Cowden syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003452613.1
Allele description [Variation Report for NM_000314.8(PTEN):c.732_781del (p.Gln245fs)]
NM_000314.8(PTEN):c.732_781del (p.Gln245fs)
Condition(s)
-
DB027775 TESTI2 Homo sapiens cDNA clone TESTI2010412 5', mRNA sequence
DB027775 TESTI2 Homo sapiens cDNA clone TESTI2010412 5', mRNA sequencegi|83063964|gnl|dbEST|34179354|dbj| 775.1|Nucleotide
-
Homo sapiens Fc receptor-like protein 3 (FCRH3) mRNA, complete cds
Homo sapiens Fc receptor-like protein 3 (FCRH3) mRNA, complete cdsgi|15528834|gb|AY043466.1|Nucleotide
-
YARS2 tyrosyl-tRNA synthetase 2 [Equus caballus]
YARS2 tyrosyl-tRNA synthetase 2 [Equus caballus]Gene ID:100064921Gene
-
100064921[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023