NM_001360.3(DHCR7):c.1212C>T (p.Arg404=) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002938140.3
Allele description [Variation Report for NM_001360.3(DHCR7):c.1212C>T (p.Arg404=)]
NM_001360.3(DHCR7):c.1212C>T (p.Arg404=)
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
-
superoxide dismutase [Mn], mitochondrial isoform B [Homo sapiens]
superoxide dismutase [Mn], mitochondrial isoform B [Homo sapiens]gi|1018191630|ref|NP_001309743.1|Protein
-
RecName: Full=Signal peptidase complex catalytic subunit SEC11C; AltName: Full=M...
RecName: Full=Signal peptidase complex catalytic subunit SEC11C; AltName: Full=Microsomal signal peptidase 21 kDa subunit; Short=SPase 21 kDa subunit; AltName: Full=SEC11 homolog C; AltName: Full=SEC11-like protein 3; AltName: Full=SPC21gi|17367427|sp|Q9WTR7.3|SC11C_RATProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024