NM_001360.3(DHCR7):c.1131C>A (p.Val377=) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002092017.6
Allele description [Variation Report for NM_001360.3(DHCR7):c.1131C>A (p.Val377=)]
NM_001360.3(DHCR7):c.1131C>A (p.Val377=)
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
-
SLC35G5 [Pan troglodytes]
SLC35G5 [Pan troglodytes]Gene ID:740079Gene
-
AGENCOURT_90945787 NICHD_XGC_tropInt_54 Xenopus tropicalis cDNA clone IMAGE:8946...
AGENCOURT_90945787 NICHD_XGC_tropInt_54 Xenopus tropicalis cDNA clone IMAGE:8946726 5', mRNA sequencegi|117308374|gnl|dbEST|42620724|gb| 328.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024