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
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
-
centrosomal protein CEP57L1 isoform 5 [Homo sapiens]
centrosomal protein CEP57L1 isoform 5 [Homo sapiens]gi|1184495114|ref|NP_001337589.1|Protein
-
Homo sapiens centrosomal protein 57 like 1 (CEP57L1), transcript variant 21, non...
Homo sapiens centrosomal protein 57 like 1 (CEP57L1), transcript variant 21, non-coding RNAgi|1843978544|ref|NR_146889.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024