NM_001360.3(DHCR7):c.586A>G (p.Met196Val) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- May 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001510852.10
Allele description [Variation Report for NM_001360.3(DHCR7):c.586A>G (p.Met196Val)]
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
Condition(s)
- Name:
- Smith-Lemli-Opitz syndrome (SLOS)
- Synonyms:
- LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400
Assertion and evidence details
Last Updated: Oct 8, 2024