NM_001360.3(DHCR7):c.303C>T (p.Thr101=) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000873529.12
Allele description [Variation Report for NM_001360.3(DHCR7):c.303C>T (p.Thr101=)]
NM_001360.3(DHCR7):c.303C>T (p.Thr101=)
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: Sep 29, 2024