NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000725474.4
Allele description [Variation Report for NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)]
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024