NM_001360.3(DHCR7):c.369C>G (p.Pro123=) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001429201.7
Allele description [Variation Report for NM_001360.3(DHCR7):c.369C>G (p.Pro123=)]
NM_001360.3(DHCR7):c.369C>G (p.Pro123=)
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 I (mitochondrion) [Tupaia splendidula]
cytochrome c oxidase subunit I (mitochondrion) [Tupaia splendidula]gi|1910322645|gb|QOD41446.1|Protein
-
C-C chemokine receptor type 5 [Mus musculus]
C-C chemokine receptor type 5 [Mus musculus]gi|31542356|ref|NP_034047.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024