NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670470.1
Allele description [Variation Report for NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)]
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)
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
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AL774528 XGC-gastrula Xenopus tropicalis cDNA clone TGas083n08 5', mRNA sequence
AL774528 XGC-gastrula Xenopus tropicalis cDNA clone TGas083n08 5', mRNA sequencegi|38484622|gnl|dbEST|20519867|emb| 528.2|Nucleotide
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AL973392 XGC-gastrula Xenopus tropicalis cDNA clone TGas122d14 5', mRNA sequence
AL973392 XGC-gastrula Xenopus tropicalis cDNA clone TGas122d14 5', mRNA sequencegi|39036640|gnl|dbEST|20760772|emb| 392.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024