NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) AND 8q24.3 microdeletion syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735801.1
Allele description [Variation Report for NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)]
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022