NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003619058.2
Allele description [Variation Report for NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)]
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
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
-
Rhodomyrtus tomentosa chloroplast, complete genome
Rhodomyrtus tomentosa chloroplast, complete genomegi|1707510799|ref|NC_043848.1|Nucleotide
-
phytoene synthase 2, partial [Zea mays]
phytoene synthase 2, partial [Zea mays]gi|32350123|gb|AAP55398.1|Protein
-
fructose-bisphosphate aldolase B [Homo sapiens]
fructose-bisphosphate aldolase B [Homo sapiens]gi|40354205|ref|NP_000026.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024