NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001451676.7
Allele description [Variation Report for NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=)]
NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=)
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
-
cytochrome c oxidase subunit 2, putative [Plasmodium malariae]
cytochrome c oxidase subunit 2, putative [Plasmodium malariae]gi|1624467168|ref|XP_028863678.1|Protein
-
PREDICTED: Salvelinus alpinus frataxin, mitochondrial (LOC111974382), mRNA
PREDICTED: Salvelinus alpinus frataxin, mitochondrial (LOC111974382), mRNAgi|1343016841|ref|XM_024002100.1|Nucleotide
-
RHEB [Athene cunicularia]
RHEB [Athene cunicularia]Gene ID:113477285Gene
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Last Updated: Sep 29, 2024