NM_001360.3(DHCR7):c.249G>A (p.Ser83=) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003085460.2
Allele description [Variation Report for NM_001360.3(DHCR7):c.249G>A (p.Ser83=)]
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
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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MAG TPA_asm: uncultured Eubacteriales bacterium isolate SRR16280026_bin.35_MetaW...
MAG TPA_asm: uncultured Eubacteriales bacterium isolate SRR16280026_bin.35_MetaWRAP_v1.3_MAG, whole genome shotgun sequencing projectgi|2551076047|tpe|CAUGCM000000000.1 CM010000000Nucleotide
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Last Updated: Feb 28, 2024