NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001008861.1
Allele description [Variation Report for NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs)]
NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 23, 2022