NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) AND HSPG2-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004543354.1
Allele description [Variation Report for NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)]
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
Condition(s)
- Name:
- HSPG2-related disorder
- Synonyms:
- HSPG2-Related Disorders; HSPG2-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Jul 29, 2024